Symptoms anomalies noonan syndrome. Medical search. Frequent questions

Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. (e-apem.org)
In syndromes in which there are differences in physical appearance, such as short stature/accelerated growth, facial dysmorphism or delayed sexual development, affected individuals can suffer from low self-esteem and this can often precipitate secondary behavioural difficulties. (herts.ac.uk)
Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome). (medscape.com)

Bleeding diathesis is present in as many as half of all patients with Noonan syndrome. (medscape.com)
The observation that patients with Noonan syndrome have normal karyotypes was important in allowing the distinction to be made between the Turner and Noonan syndromes. (medscape.com)
The primary source of morbidity and mortality in patients with Noonan syndrome depends on the presence and type of congenital heart disease. (medscape.com)
A study by Jongmans et al also demonstrated an elevated cancer risk in patients with Noonan syndrome. (medscape.com)
A study by Cessans et al comparing growth patterns in patients with Noonan syndrome based on genotype found that at birth, patients with PTPN11 mutations tended to be shorter and thinner than were those with mutations in SOS1 , KRAS , or Noonan syndrome with multiple lentigines-associated PTPN11 (NSML- PTPN11 ). (medscape.com)
[3] The pattern seen in those patients with Noonan syndrome differ from those patients who have Down syndrome in that "partial" AVCD is more prevalent in those with NS, whereas those with down syndrome show a prevalence of the "complete" form of AVCD. (wikipedia.org)

The final adult height of individuals with Noonan syndrome is about 161-167 cm in males and 150-155 cm in females, which approaches the lower limit of normal. (wikipedia.org)
Approximately 25% of individuals with Noonan syndrome have mental retardation . (medscape.com)

Males with Klinefelter's syndrome have an extra X chromosome, which causes abnormal development of the testicles. (ubbcluj.ro)
The discussion of male infertility focuses on genetic factors impairing spermatogenesis and includes numerical chromosomal anomalies such as Klinefelter syndrome, structural chromosomal anomalies such as Y-chromosome microdeletions, certain single gene mutations, syndromic diseases, and epigenetic mutations. (ubbcluj.ro)
A small percentage (3-4%) of Down syndrome results from an unbalanced translocation between chromosome 21 and another chromosome (usually 13, 14, or 15). (medicalhomeportal.org)
[ Bull: 2022 ] A smaller percentage of individuals with Down syndrome have trisomy 21 mosaicism from postzygotic nondisjunction during mitosis of the fertilized egg or from postzygotic loss of a chromosome 21 from a trisomic zygote. (medicalhomeportal.org)
However, heart defects can be part of genetic and chromosome syndromes. (pharmaceuticalintelligence.com)
Deletions on chromosome 22 cause the syndrome. (fdna.health)

The skeletal anomalies include thickened calvarium, brachydactyly with cone-shaped epiphyses, shortened tubular bones, hypoplastic iliac wings, and large pedicles of the vertebrae [ 2 ]. (e-apem.org)

The diagnosis may be suspected based on symptoms, medical imaging, and blood tests. (wikipedia.org)
The most common signs leading to the diagnosis of Noonan syndrome are unique facial characteristics and musculoskeletal features. (wikipedia.org)
Highly variable expressivity of the syndrome makes the diagnosis difficult, especially in sporadic patients. (medscape.com)
If lentigines are absent, a diagnosis of LEOPARD syndrome may be established if the patient has features in at least 3 above-mentioned categories and has an immediate relative with the defined diagnosis. (medscape.com)
Diagnosis of LEOPARD syndrome is very difficult in small children. (medscape.com)
however, an absence of the feature does not exclude the diagnosis of the syndrome. (medscape.com)
Early detection and diagnosis leads to significantly less comorbidities and symptoms in later life of FAS patients [27] . (aao.org)
C (p.Ile500Thr) in the SMAD4 gene, suggesting a diagnosis of Myhre syndrome. (biomedcentral.com)
The more we know about each syndrome, the greater diagnosis and testing becomes. (fdna.health)

These patients were previously thought to have a form of Turner syndrome , with which Noonan syndrome shares numerous clinical features. (medscape.com)
Turner Syndrome In Turner syndrome, girls are born with one of their two X chromosomes partly or completely missing. (msdmanuals.com)
Some of these genetic conditions, such as Down syndrome , Turner syndrome , and 22q11.2 deletion syndrome , result from changes in the number or structure of particular chromosomes. (medlineplus.gov)
Owing to the range of intellectual disability exhibited across behavioural phenotypes, it is important to assess cognitive functioning at an early stage, particularly when the level of intellectual disability may be borderline, as in the case of Sotos and Turner syndromes, so that educational intervention can be tailored to meet the individual's needs and maximize the individual's potential (Barnard et al. (herts.ac.uk)

The birth prevalence of Noonan syndrome (NS) is estimated between 1:1000 to 1:2500. (orpha.net)
The prevalence of Down syndrome varies by age (due to the combined impact of increasing life span and selective terminations decreasing birth prevalence) and country (because of dramatic differences in availability of prenatal testing and termination and population attitudes). (medicalhomeportal.org)
The graph (left) is based on the National Down Syndrome Cytogenetic Register and shows pooled prevalence (per 10,000 live births) of Down syndrome by maternal age. (medicalhomeportal.org)
[ Mai: 2013 ] Prevalence would have been higher but for Down syndrome-related elective pregnancy terminations. (medicalhomeportal.org)
The estimated birth prevalence of Down syndrome among live births in the United States in 2010 was 1:826. (medicalhomeportal.org)
2001). In spite of the prevalence of autistic-like behaviours in many syndromes, autism is typically associated with a few conditions only, notably tuberous sclerosis. (herts.ac.uk)

The clinical spectrum of NS may differ slightly between causative genes, and some forms have been described as ''Noonan like'' (NS-like disorder with juvenile myelomonocytic leukemia and NS-like disorder with loose anagen hair). (orpha.net)

Lentigines on the sclerae in a child with LEOPARD syndrome. (medscape.com)
Based on clinical manifestations and genetic test results, proband 1 was diagnosed with multiple lentigines Noonan syndrome, and probands 2 and 3 were diagnosed with Noonan syndrome. (bvsalud.org)

The severity of co-occurring congenital anomalies and degree of associated cognitive disability and social adaptability is variable. (medicalhomeportal.org)
Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation. (harvard.edu)
This rare congenital disease presents with a wide variety of symptoms that may vary in terms of their severity across affected individuals. (fdna.health)
This is due to the fact that symptoms can vary widely between individuals in terms of their types and severity of presentation. (fdna.health)

A number of genetic mutations can result in Noonan syndrome. (wikipedia.org)
The condition is caused by heterozygous mutations in the FAM111A gene and is allelic to the non-lethal, dominant disorder Kenny-Caffey syndrome (KCS, OMIM #127000). (bvsalud.org)
The pathophysiology of Noonan syndrome is not fully understood but is associated with mutations in genes that are part of the RAS/RAF/MEK/ERK signal transduction pathway, an important regulator of cell growth. (medscape.com)
like Noonan syndrome, all of these cancers are associated with RAS signaling pathway mutations. (medscape.com)
In nearly all patients with Apert syndrome, the cause is 1 of 2 FGFR2 mutations involving amino acids (Ser252Trp, Pro253Arg). (medscape.com)
Myhre syndrome is a genetic disorder caused by gain of function mutations in the SMAD Family Member 4 (SMAD4) gene, resulting in progressive, proliferative skin and organ fibrosis. (biomedcentral.com)
Other conditions, including Noonan syndrome and Alagille syndrome , result from mutations in single genes. (medlineplus.gov)
TBX4 mutations and deletions are associated with abnormal distal lung development, persistent pulmonary hypertension of a newborn, and pediatric pulmonary hypertension , as well as multiple congenital anomalies and developmental disabilities . (childrenshospital.org)

As well as the mechanical causes, syndromes such as craniofrontonasal dysplasia, Apert syndrome, Crouzon syndrome and Aarskog syndrome can cause hypertelorism as part of the features that make up the syndrome. (tessab.net)
Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. (medscape.com)
Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or Klippel-Feil anomaly, Duane syndrome (paresis of the sixth cranial nerve), and hearing loss. (bvsalud.org)
2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). (beds.ac.uk)

[9] Approximately 40-50% of fetuses diagnosed with AVCD have Down syndrome, and a further 15-20% are associated with other chromosomal abnormalities and syndromes, such as DiGeorge syndrome . (wikipedia.org)
NIPT, a blood test conducted at 10 weeks, screens for common chromosomal abnormalities, such as Down syndrome, trisomy 13, and trisomy 18, complementing the 10-week scan perfectly. (londonpregnancy.com)

The deletion itself may not lead to a clinically recognizable syndrome and a subset of persons with the recurrent deletion have no obvious clinical findings, implying that penetrance for the deletion is incomplete. (nih.gov)
Asthma is a clinical syndrome characterized by episodic reversible airway obstruction, increased bronchial reactivity, and airway inflammation. (medscape.com)
In the appropriate clinical context, physicians caring for postural tachycardia syndrome/orthostatic intolerance patients should consider additional evaluation for arrhythmias beyond sinus tachycardia. (cambridge.org)
The study of the genotype-phenotype correlation is not simple in recently-described genetic syndromes, with limited numbers of clinical cases, but it is very important for the clinician, who has to interpret the genetic results and organize the follow-up for children with genetic syndromes. (mdpi.com)

Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. (harvard.edu)
Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome. (harvard.edu)

The condition was named after American pediatric cardiologist Jacqueline Noonan, who described her first case in 1963. (wikipedia.org)
[2] The condition was first described in 1883 and was named after American pediatric cardiologist Jacqueline Noonan, who described further cases in 1963. (handwiki.org)
Noonan syndrome was first recognized as a unique entity in 1963, when Noonan and Ehmke described a series of patients with unusual facies and multiple malformations, including congenital heart disease. (medscape.com)

Developmental anomalies of the genitourinary system are described in 26% of patients, predominantly in men. (medscape.com)
Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. (tessab.net)
In addition, variable developmental problems and schizoid features are also associated with this syndrome. (harvard.edu)

Abnormal features of Noonan syndrome at the age of 3 months: Note the eyebrow slant and left-side eyelid dropping. (handwiki.org)
Abnormal features of Noonan syndrome at the age of 3 months: Note the low-set, posteriorly rotated, and abnormally formed ear. (handwiki.org)
The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection. (lookformedical.com)

Several other genes that have been linked to a Noonan syndrome-like phenotype have been recognized as well but have been found in a very small number of persons. (medscape.com)
Down syndrome refers to the phenotype or the pattern of physical traits, while trisomy 21 represents the genotype, i.e., the underlying chromosomal basis of the condition. (medicalhomeportal.org)

A 12-year-old girl with Noonan syndrome, displaying typical webbed neck and double structural curve with rib deformity. (handwiki.org)

Some of the characteristic features of Noonan syndrome include a large head with excess skin on the back of the neck, low hairline at the nape of the neck, high hairline at the front of the head, triangular face shape, broad forehead, and a short, webbed neck. (wikipedia.org)
In the eyes, hypertelorism (widely set eyes) is a defining characteristic, present in 95% of people with Noonan syndrome. (wikipedia.org)
While uncommon, it is the typical morphology characteristic of Noonan syndrome. (medscape.com)
An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. (nih.gov)

Noonan syndrome is a genetic disorder that prevents normal development of various parts of the body. (medscape.com)
Along with the Boston Children's Pulmonary Genetics Program , we are researching genetic connections between Noonan syndrome , a genetic disorder that prevents growth in many areas of the body, and PH. (childrenshospital.org)

Fetal Alcohol Syndrome (FAS) is an irreversible congenital condition that is a result of maternal alcohol use during pregnancy [1] . (aao.org)
FAS is a syndrome that falls under a larger group of conditions known as Fetal Alcohol Spectrum Disorder (FASD). (aao.org)
It's an opportunity to unveil critical insights into your baby's development, offering early detection of potential fetal anomalies and precise pregnancy dating. (londonpregnancy.com)
At the 10-week mark, this scan can identify up to 10 major fetal anomalies, providing parents with vital information to make informed choices about their pregnancy. (londonpregnancy.com)
However, the majority of fetal abnormalities are structural (physical), and some of these may be more severe than Down syndrome. (londonpregnancy.com)
Admittedly, some fetal structures and organs may not be fully visualized at the 10-week mark, and certain structural anomalies may remain undiagnosed due to the fetus's ongoing development. (londonpregnancy.com)

Supravalvular lesions may occur in the setting of TOF, Williams syndrome, and Alagille syndrome, as well as in Noonan syndrome. (medscape.com)

22q11 Deletion Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
This graph shows the total number of publications written about "22q11 Deletion Syndrome" by people in Harvard Catalyst Profiles by year, and whether "22q11 Deletion Syndrome" was a major or minor topic of these publication. (harvard.edu)
Below are the most recent publications written about "22q11 Deletion Syndrome" by people in Profiles. (harvard.edu)
Frontal Hypoactivation During a Working Memory Task in Children With 22q11 Deletion Syndrome. (harvard.edu)

Noonan syndrome is caused by a genetic mutation and is acquired when a child inherits a copy of an affected gene from a parent (dominant inheritance). (tessab.net)
Studying the genetics of PAH, we're finding that elevated right ventricular pressure may be found in children who show symptoms of or have a family history of a genetic blood disorder known as hereditary hemorrhagic telangiectasia (HHT) - particularly those with an identified ALK1 genetic mutation. (childrenshospital.org)
Because of the way in which this condition is inherited, parents who are carriers of the gene mutation responsible for the syndrome have a 50% chance of passing the syndrome on to their child. (fdna.health)

3, 4, 5] Eisenmenger syndrome associated with trisomy 13 also results in RVOTO in conjunction with other cardiac malformations. (medscape.com)
Treatment is focused on the symptoms of Noonan syndrome and may include cardiac therapy, growth hormone therapy, physical and speech therapy, ophthalmologic treatment, management of bleeding disorders, treatment of lymphatic problems, and urologic therapy (in males). (medscape.com)
Vascular rings can manifest with various symptoms at different ages and many patients also have co-existing cardiac anomalies. (ejcvsmed.org)
There is sparse literature on cardiac arrhythmias and the utility of ambulatory rhythm monitoring in patients with postural tachycardia syndrome and orthostatic intolerance. (cambridge.org)
This retrospective descriptive study examined the frequency of cardiac arrhythmias, as detected by ambulatory rhythm monitoring, in children with postural tachycardia syndrome/orthostatic intolerance or syncope who were seen at the Children's National Hospital Electrophysiology Clinic between January 2001 and December 2020. (cambridge.org)
This study suggests that a substantial proportion of postural tachycardia syndrome/orthostatic intolerance patients may have concomitant underlying cardiac arrhythmias, at a frequency similar to what is seen in patients undergoing primary evaluation for cardiac symptoms such as chest pain, palpitations, and syncope. (cambridge.org)

It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. (harvard.edu)

Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. (wikipedia.org)
The facial characteristics are most prominent in infancy, becoming less apparent with age in many people with Noonan syndrome. (wikipedia.org)

Down syndrome, also known as trisomy 21, is the most common genetic disorder causing intellectual disability and the most frequently occurring human chromosomal syndrome. (medicalhomeportal.org)
2002). The course of the syndrome, both behaviourally and medically, is not stagnant, and the presentation of the syndrome can vary according to level of intellectual disability and input received, and can change with increasing age. (herts.ac.uk)
While Down's syndrome is the most common cause of intellectual disability, fragile-X syndrome is the most common inherited cause of learning disability (see Sabaratnam, 2003). (herts.ac.uk)
In a number of syndromes, such as Cornelia de Lange, milder phenotypic expression is associated with less severe intellectual disability. (herts.ac.uk)
for example, females with fragile-X syndrome have milder phenotypic expression and less severe intellectual disability. (herts.ac.uk)
Figure 1 shows the typical level of intellectual disability for a range of genetic syndromes. (herts.ac.uk)
However, this presents a paradox, as symptoms of a psychiatric disorder may be overshadowed by the behaviour and intellectual disability of affected individuals. (herts.ac.uk)
One of the main signs of the syndrome is intellectual disability. (fdna.health)

The incidence of Noonan syndrome is estimated to be 1 case per 1000 to 1 case per 2500 live births. (medscape.com)

But the symptoms of milder heart defects may not show up until childhood or adulthood. (medlineplus.gov)
What are the symptoms of congenital heart defects? (medlineplus.gov)
The signs and symptoms are different, depending on the type and number of defects and how serious they are. (medlineplus.gov)
Other congenital anomalies (e.g., heart and gastrointestinal defects) and acquired conditions (e.g., hypothyroidism, hearing impairment, and celiac disease) occur more frequently in children with Down syndrome. (medicalhomeportal.org)
People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer's disease, childhood leukemia, and thyroid conditions. (medicalhomeportal.org)
[3] [10] The remaining 30-40% of cases are not linked to a syndrome, with AVCD observed without other major defects. (wikipedia.org)
However, the heart defects associated with CCHD can also occur as part of genetic syndromes that have additional features. (medlineplus.gov)
Some of these symptoms may be obvious at birth, as birth defects, others may take longer to be noticeable. (fdna.health)

Skin signs and symptoms in Noonan syndrome include lymphedema (lymph swelling of the extremities), keloid formation, excessive scar formation, hyperkeratosis (overdevelopment of outer skin layer), pigmented nevi (darkly pigmented skin spots), and connective tissue disease. (wikipedia.org)
The lysosomal accumulation of glycosaminoglycans is responsible for the widespread signs and symptoms found in this disease. (arizona.edu)
Although babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. (medlineplus.gov)
CCHD is usually isolated, which means it occurs alone (without signs and symptoms affecting other parts of the body). (medlineplus.gov)

The inheritance rate is low, although when part of Noonan syndrome it is autosomal dominant. (medscape.com)
Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance. (nih.gov)

Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate. (mendelian.co)

Abnormalities in the limbs and extremities may occur in Noonan syndrome. (wikipedia.org)
While pulmonic valvular stenosis is primarily a congenital malformation, it may also occur as part of congenital rubella syndrome. (medscape.com)
[4] Symptoms often appear between 1-2 months of age but can occur earlier in some newborns. (wikipedia.org)

Myhre Syndrome is a rare genetic mimic of scleroderma that should be considered alongside several other monogenic diseases presenting with pathological fibrosis from early in life. (biomedcentral.com)
Cutaneous and skeletal manifestations of the 13 year old patient with Myhre syndrome we describe in this report. (biomedcentral.com)
We report the first Korean case of genetically-confirmed Myhre syndrome in Korea. (e-apem.org)

Other musculoskeletal manifestations in Noonan syndrome are associated with undifferentiated connective-tissue disorders which can be associated with joint contractures (tightness) or joint hypermobility (looseness). (wikipedia.org)
Behavioural phenotypes are syndromes with a chromosomal or genetic aetiology, comprising both physiological and behaviour manifestations, including a distinctive social, linguistic, cognitive and motor profile. (herts.ac.uk)

There are a number of specific genes related to this deletion which are still being confirmed as the exact cause of the syndrome. (fdna.health)

PVS has been seen in the setting of well-defined congenital syndromes, most notably Holt-Oram syndrome, Noonan syndrome, and Leopard syndrome. (medscape.com)

Apert syndrome is a genetic disorder characterized by skeletal abnormalities. (tessab.net)

Congenital rare diseases may present with a wide range of varying symptoms. (fdna.health)

A study by Forte et al found that in both Crouzon and Apert syndrome, the bony orbit is shortened, orbital and orbital soft-tissue volumes are reduced, and the globe's volume is increased. (medscape.com)
What is a Apert syndrome? (tessab.net)
A key feature of Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). (tessab.net)

Causes of male infertility - UpToDate Causes of male infertility Endocrine and systemic disorders (hypogonadotropic hypogonadism) Congenital disorders Congenital GnRH deficiency (Kallmann syndrome) Iron overload syndromes Multiorgan genetic disorders (Prader-Willi syndrome, Laurence-Moon-Biedl syndrome, familial cerebellar ataxia) Low sperm count (oligospermia) A malfunctioning immune system. (ubbcluj.ro)
Although the underlying origin of these behaviours can sometimes be linked to a biological mechanism, such as a deficiency in the enzyme hypoxanthineguanine phosphoribosyl transferase (HPRT) in Lesch-Nyhan syndrome, in most conditions the pathway from gene to behaviour is less clear. (herts.ac.uk)

The probability of having a baby with Down syndrome increases as the mother's age increases, but due to higher pregnancy rates in younger women, most children with Down syndrome are born to women under 35 years of age. (medicalhomeportal.org)
[8] 45% of children with Down syndrome have congenital heart disease. (wikipedia.org)

Area of disordered pigmentation on the trunk of a patient with LEOPARD syndrome. (medscape.com)
Onychodystrophy in a child with LEOPARD syndrome. (medscape.com)

The updated recommendations include concurrent Zika virus nucleic acid test (NAT) and serologic testing as soon as possible through 12 weeks after symptom onset. (cdc.gov)
Central Pain Syndrome, also known as dejerine-roussy syndrome, is related to paine syndrome and spinal cord injury, and has symptoms including chronic pain, acute onset pain and pain, not elsewhere classified. (silexon.tech)

Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. (mendelian.co)

Crouzon syndrome was first described in 1912. (medscape.com)
Typical appearance of a patient with Crouzon syndrome, with maxillary retrusion, exorbitism, and pseudoprognathism. (medscape.com)
The upper dental arch in Crouzon syndrome is narrowed and retruded, which results in a class III malocclusion. (medscape.com)

Symptoms may include difficulty breathing ( dyspnea ) and bluish discoloration on skin, fingernails, and lips ( cyanosis ). (wikipedia.org)
Symptoms typically include low-grade fever, earache, and pulling at the ears. (dontforgetthebubbles.com)

The incidence of Noonan syndrome appears to be consistent worldwide. (medscape.com)

Eyes that are spaced wide apart can be an indication of an anatomical feature called orbital hypertelorism which can be a symptom of various syndromes. (tessab.net)

There was history suggestive of mild Raynaud's phenomenon, but no digital ulceration, gastrointestinal, or respiratory symptoms of note. (biomedcentral.com)
Head-banging is often associated with dental pain or upper respiratory tract infections causing sinusitis or otitis (Clarke, 2002) or gastrointestinal reflux, as commonly occurs in Cornelia de Lange syndrome. (herts.ac.uk)

The specific gene responsible for this syndrome is the DHCR7 gene. (fdna.health)

Anatomy1

Diseases18

Chemicals and Drugs5

Analytical, Diagnostic and Therapeutic Techniques and Equipment2

Phenomena and Processes4

Short stature3

Patients with Noonan syndrome6

Individuals with Noonan syndrome2

Chromosome6

Skeletal anomalies1

Diagnosis9

Turner4

Prevalence6

Disorder with juvenile myelomon1

Lentigines2

Severity4

Mutations8

Dysplasia4

Chromosomal abnormalities2

Clinical4

22q11.2 deletion2

19633

Developmental3

Abnormal3

Phenotype2

Deformity1

Characteristic4

Genetic disorder that prevents2

Fetal6

Alagille1

Deletion Syndrome4

Mutation3

Cardiac6

DiGeorge1

Facial2

Intellectual8

Live births1

Defects8

Signs4

Inheritance2

Cystic1

Occur3

Myhre3

Manifestations2

Genes1

Notably1

Abnormalities1

Diseases1

Apert3

Deficiency2

Children with Down syndrome2

Leopard2

Onset2

Vertebral1

Crouzon3

Include2

Incidence1

Hypertelorism1

Gastrointestinal2

Gene1