Hand Deformities, Congenital
Foot Deformities, Congenital
Limb Deformities, Congenital
Receptor Tyrosine Kinase-like Orphan Receptors
Growth Differentiation Factor 5
Fibrous Dysplasia, Polyostotic
Chromosomes, Human, Pair 2
Bone Morphogenetic Protein Receptors, Type I
Chromosomes, Human, Pair 12
Bone Morphogenetic Proteins
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. (1/20)(+info)
Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels. (2/20)(+info)
Brachydactylia associated with mitochondrial disorder in an octogenarian. (3/20)In a 80yo female with acute pancreatitis, myopathy, polyneuropathy, short stature, diabetes mellitus, hypothyroidism, hypoacusis, atrial fibrillation, hepatopathy, and renal cysts, mitochondrial disease was diagnosed. The family history for the disease was negative. Interestingly, the patient additionally presented with brachydactylia, which was also found in her son and father and has not been reported in association with mitochondrial disease before. Whether the relation between brachydactylia and mitochondrial disease was causal or coincidental remains speculative. (+info)
Evaluation of qualitative methods for phenotyping brachymesophalangia-V from radiographs of children. (4/20)(+info)
Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report. (5/20)(+info)
Chondroitin sulfate synthase 1 (Chsy1) is required for bone development and digit patterning. (6/20)(+info)
Pseudohypoparathyroidism presenting with ventricular arrhythmia: a case report. (7/20)(+info)
Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance. (8/20)(+info)
There are two types of brachydactyly:
1. Postaxial brachydactyly: This type affects the little finger side of the hand, causing the corresponding finger to be shorter than the others.
2. Preaxial brachydactyly: This type affects the thumb side of the hand, causing the corresponding finger to be shorter than the others.
Brachydactyly can be caused by a variety of genetic mutations or chromosomal abnormalities, such as Turner syndrome, Noonan syndrome, and Down syndrome. It can also be caused by environmental factors, such as maternal diabetes during pregnancy.
The symptoms of brachydactyly may include:
* Shortened fingers or toes
* Limited range of motion in the affected digits
* Difficulty grasping or manipulating objects
* Aesthetic concerns
Treatment for brachydactyly depends on the underlying cause and severity of the condition. In some cases, surgery may be necessary to lengthen the affected fingers or toes. Physical therapy and occupational therapy can also help improve range of motion and function.
It's important to note that brachydactyly is usually a congenital condition, meaning it is present at birth. However, in some cases, it may not be diagnosed until later in childhood or adulthood. If you suspect your child or yourself may have brachydactyly, it's important to consult with a healthcare professional for proper evaluation and treatment.
Congenital hand deformities are present at birth and can be caused by genetic mutations or environmental factors during fetal development. They can affect any part of the hand, including the fingers, thumb, or wrist. Some common congenital hand deformities include:
1. Clubhand: A deformity characterized by a shortened hand with the fingers and thumb all bent towards the palm.
2. Clinodactyly: A deformity characterized by a curved or bent finger.
3. Postaxial polydactyly: A deformity characterized by an extra digit on the little finger side of the hand.
4. Preaxial polydactyly: A deformity characterized by an extra digit on the thumb side of the hand.
5. Symbrachydactyly: A deformity characterized by a shortened or missing hand with no or only a few fingers.
The symptoms of congenital hand deformities can vary depending on the type and severity of the deformity. Some common symptoms include:
1. Limited range of motion in the affected hand.
2. Difficulty grasping or holding objects.
3. Pain or stiffness in the affected hand.
4. Abnormal finger or thumb position.
5. Aesthetic concerns.
The diagnosis of congenital hand deformities is usually made through a combination of physical examination, medical history, and imaging studies such as X-rays or ultrasound. Treatment options for congenital hand deformities can vary depending on the type and severity of the deformity and may include:
1. Surgery to correct the deformity.
2. Physical therapy to improve range of motion and strength.
3. Bracing or splinting to support the affected hand.
4. Orthotics or assistive devices to help with daily activities.
5. Medications to manage pain or inflammation.
It is important to seek medical attention if you suspect that your child may have a congenital hand deformity, as early diagnosis and treatment can improve outcomes and reduce the risk of complications.
There are many different types of congenital foot deformities, including:
1. Clubfoot (also known as talipes equinovarus): This is a condition in which the foot is twisted inward and downward, so that the heel is next to the ankle bone and the toes are pointing upwards.
2. Cavus foot (also known as high arch foot): This is a condition in which the arch of the foot is raised and rigid, making it difficult to walk or stand.
3. Flatfoot (also known as fallen arch foot): This is a condition in which the arch of the foot is low or nonexistent, causing the foot to appear flat.
4. Metatarsus adductus: This is a condition in which the forefoot is turned inward so that the toes are pointing towards the other foot.
5. Cleft foot: This is a rare condition in which the foot is misshapen and has a cleft or divide in the soft tissue.
6. Polydactyly (extra digits): This is a condition in which there are extra toes or fingers present.
7. Posterior tibial dysfunction: This is a condition in which the tendon that supports the arch of the foot is weakened or injured, leading to a flatfoot deformity.
8. Hereditary conditions: Some congenital foot deformities can be inherited from parents or grandparents.
9. Genetic syndromes: Certain genetic syndromes, such as Down syndrome, can increase the risk of developing congenital foot deformities.
10. Environmental factors: Exposure to certain medications or chemicals during pregnancy can increase the risk of congenital foot deformities.
Congenital foot deformities can be diagnosed through a physical examination, X-rays, and other imaging tests. Treatment options depend on the specific type and severity of the deformity, but may include:
1. Observation and monitoring: Mild cases of congenital foot deformities may not require immediate treatment and can be monitored with regular check-ups to see if any changes occur.
2. Orthotics and shoe inserts: Customized shoe inserts or orthotics can help redistribute pressure and support the foot in a more neutral position.
3. Casting or bracing: In some cases, casting or bracing may be used to help straighten the foot and promote proper alignment.
4. Surgery: In severe cases of congenital foot deformities, surgery may be necessary to correct the deformity. This can involve cutting or realigning bones, tendons, or other soft tissue to achieve a more normal foot position.
5. Physical therapy: After treatment, physical therapy may be recommended to help improve strength and range of motion in the affected foot.
Note: The medical information provided here is for general purposes only and should not be considered a substitute for professional medical advice, diagnosis, or treatment. If you suspect that your child may have a congenital limb deformity, it is important to consult with a qualified healthcare provider as soon as possible.
The exact cause of fibrous dysplasia is unknown, but genetic factors are suspected to play a role. It can occur sporadically or as part of certain inherited medical conditions. Fibrous dysplasia is more common in males than females and typically affects children and young adults.
The symptoms of fibrous dysplasia depend on the bones affected and may include pain, limb deformity, and difficulty moving or using affected limbs. Diagnosis is based on a combination of clinical evaluation, imaging studies such as X-rays, CT scans or MRI, and biopsy to confirm the presence of fibrous tissue in affected bones.
Treatment for fibrous dysplasia depends on the severity of symptoms and the specific bones involved, but may include medications such as bisphosphonates to slow bone growth, surgery to remove affected bone tissue or correct deformities, or radiation therapy to reduce pain and improve function. In some cases, surgical removal of affected bone tissue may be necessary.
Prognosis for fibrous dysplasia varies depending on the severity of symptoms and the specific bones involved, but in general, with appropriate treatment, most individuals with this condition can achieve significant improvement in symptoms and function. However, some individuals may experience chronic pain or disability despite treatment.
In summary, fibrous dysplasia is a developmental disorder that affects multiple bones in the body, causing pain, deformity, and impaired function of affected limbs. Diagnosis is based on clinical evaluation, imaging studies, and biopsy, and treatment options include medications, surgery, or radiation therapy. Prognosis varies depending on severity and specific bones involved.
1. Skull deformities: Synostosis can lead to abnormal growth and shape of the skull, which can cause visual disturbances, hearing loss, and other complications.
2. Respiratory problems: Fused bones in the skull can reduce the size of the nasal passages and sinuses, making it harder to breathe properly.
3. Neurological issues: Synostosis can press on the brain and spinal cord, leading to headaches, seizures, and other neurological symptoms.
4. Vision problems: The fusion of bones can cause double vision or other visual disturbances, which can affect a child's ability to learn and develop normally.
5. Hearing loss: In some cases, synostosis can lead to hearing loss due to the abnormal growth of the bones in the middle ear.
6. Sleep apnea: Synostosis can cause the airway to be narrowed or blocked, leading to sleep apnea and other breathing problems.
7. Dental problems: Fused bones in the skull can affect the alignment of teeth and lead to dental problems such as crowding, misalignment, or tooth loss.
8. Speech difficulties: Synostosis can cause speech difficulties due to the abnormal growth of the bones in the mouth and throat.
9. Feeding difficulties: Fused bones in the skull can make it harder for a child to eat properly, leading to feeding difficulties and malnutrition.
10. Emotional and social challenges: Children with synostosis may experience emotional and social challenges due to their appearance or difficulty with basic functions such as eating and breathing.
Treatment for synostosis usually involves a combination of surgery, physical therapy, and other supportive care to help manage the symptoms and improve quality of life.
The following are some common types of maxillofacial abnormalities:
1. Cleft lip and palate: A birth defect that affects the tissues of the upper jaw, nose, and mouth. It can cause problems with speech, hearing, and dental development.
2. Facial asymmetry: An imbalance or unevenness of the face, which can be caused by genetics or trauma.
3. Micrognathia: A condition where the jaw is smaller than normal, which can cause difficulty swallowing, breathing, and speaking.
4. Macroglossia: An abnormally large tongue, which can cause difficulties with speech and swallowing.
5. Dacryostenosis: A blockage of the tear ducts, which can cause tears to pool in the eyes and lead to infection.
6. Obstructive sleep apnea: A condition where the airway is blocked during sleep, leading to pauses in breathing and poor quality sleep.
7. Temporomandibular joint (TMJ) disorder: Pain or dysfunction of the joint that connects the jawbone to the skull.
8. Osteogenesis imperfecta: A genetic condition that affects the development of bones, leading to weakness and deformities.
9. Moyamoya disease: A rare condition caused by narrowing or blockage of the blood vessels in the brain, leading to stroke-like symptoms.
10. Gorlin syndrome: A genetic disorder that affects the development of the head and neck, leading to multiple basal cell carcinomas and other abnormalities.
The diagnosis of maxillofacial abnormalities is typically made through a combination of physical examination, imaging studies (such as X-rays or CT scans), and specialized tests (such as endoscopy or laryngoscopy). Treatment options for these abnormalities vary depending on the specific condition and may include surgery, medication, or other interventions. It is important to seek medical attention if you experience any symptoms of maxillofacial abnormalities to receive an accurate diagnosis and appropriate treatment.
Examples of syndromes include:
1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.
Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.
Some examples of multiple abnormalities include:
1. Multiple chronic conditions: An individual may have multiple chronic conditions such as diabetes, hypertension, arthritis, and heart disease, which can affect their quality of life and increase their risk of complications.
2. Congenital anomalies: Some individuals may be born with multiple physical abnormalities or birth defects, such as heart defects, limb abnormalities, or facial deformities.
3. Mental health disorders: Individuals may experience multiple mental health disorders, such as depression, anxiety, and bipolar disorder, which can impact their cognitive functioning and daily life.
4. Neurological conditions: Some individuals may have multiple neurological conditions, such as epilepsy, Parkinson's disease, and stroke, which can affect their cognitive and physical functioning.
5. Genetic disorders: Individuals with genetic disorders, such as Down syndrome or Turner syndrome, may experience a range of physical and developmental abnormalities.
The term "multiple abnormalities" is often used in medical research and clinical practice to describe individuals who have complex health needs and require comprehensive care. It is important for healthcare providers to recognize and address the multiple needs of these individuals to improve their overall health outcomes.
The condition is caused by mutations in the GNAS gene, which encodes the alpha subunit of the PTH hormone. These mutations lead to a reduction in the amount of functional PTH produced by the parathyroid glands, resulting in hypocalcemia and other symptoms.
Symptoms of pseudohypoparathyroidism can vary in severity and may include:
1. Hypocalcemia (low blood calcium levels)
2. Tetany (muscle spasms)
4. Developmental delays
5. Short stature
6. Intellectual disability
7. Dental abnormalities (such as tooth decay or missing teeth)
8. Bone deformities (such as bowed legs or knock knees)
9. Heart problems (such as atrial fibrillation or bradycardia)
Pseudohypoparathyroidism is diagnosed through a combination of clinical evaluation, laboratory tests, and imaging studies. Laboratory tests may include measurements of PTH and calcium levels in the blood, as well as genetic testing to identify mutations in the GNAS gene. Imaging studies, such as ultrasound or CT scans, may be used to evaluate the parathyroid glands and rule out other conditions that may cause similar symptoms.
Treatment for pseudohypoparathyroidism typically involves replacement therapy with PTH to normalize calcium levels and manage symptoms. In some cases, vitamin D and calcium supplements may also be prescribed to support bone health. Surgery may be recommended in cases where the parathyroid glands are causing problems or are not functioning properly. Regular monitoring of calcium and PTH levels is important to ensure that treatment is effective and to make any necessary adjustments.
In summary, pseudohypoparathyroidism is a rare genetic disorder that affects the parathyroid glands and can cause a range of symptoms related to hypoparathyroidism. Diagnosis is based on clinical evaluation, laboratory tests, and imaging studies, and treatment typically involves replacement therapy with PTH and other supplements as needed. Regular monitoring is important to ensure that treatment is effective and to make any necessary adjustments.
There are various causes of intellectual disability, including:
1. Genetic disorders, such as Down syndrome, Fragile X syndrome, and Turner syndrome.
2. Congenital conditions, such as microcephaly and hydrocephalus.
3. Brain injuries, such as traumatic brain injury or hypoxic-ischemic injury.
4. Infections, such as meningitis or encephalitis.
5. Nutritional deficiencies, such as iron deficiency or iodine deficiency.
Intellectual disability can result in a range of cognitive and functional impairments, including:
1. Delayed language development and difficulty with communication.
2. Difficulty with social interactions and adapting to new situations.
3. Limited problem-solving skills and difficulty with abstract thinking.
4. Slow learning and memory difficulties.
5. Difficulty with fine motor skills and coordination.
There is no cure for intellectual disability, but early identification and intervention can significantly improve outcomes. Treatment options may include:
1. Special education programs tailored to the individual's needs.
2. Behavioral therapies, such as applied behavior analysis (ABA) and positive behavior support (PBS).
3. Speech and language therapy.
4. Occupational therapy to improve daily living skills.
5. Medications to manage associated behaviors or symptoms.
It is essential to recognize that intellectual disability is a lifelong condition, but with appropriate support and resources, individuals with ID can lead fulfilling lives and reach their full potential.
Brachydactyly type D
Brachydactyly-long thumb syndrome
Hypertension and brachydactyly syndrome
Brachydactyly-preaxial hallux varus syndrome
Hirschsprung's disease-type D brachydactyly syndrome
Thumb stiffness-brachydactyly-intellectual disability syndrome
Coloboma of macula-brachydactyly type B syndrome
Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
List of OMIM disorder codes
Fetal warfarin syndrome
Ruzicka Goerz Anton syndrome
Familial opposable triphalangeal thumbs duplication
Fibular aplasia-ectrodactyly syndrome
X-linked recessive inheritance
Indian hedgehog (protein)
Heart-hand syndrome, Slovenian type
Brachydactyly - MeSH - NCBI
Brachydactyly type A3 - About the Disease - Genetic and Rare Diseases Information Center
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B - PubMed
ZFIN Human Disease: brachydactyly type A2
OMIA:000146-9986: Brachydactyly in Oryctolagus cuniculus - OMIA - Online Mendelian Inheritance in Animals
Brachydactyly at The Medical Dictionary
Hypertension/Brachydactyly Syndrome - Renal Fellow Network
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome - Global Genes
A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2...
4.9h Limb Deficiency: Longitudinal Axial Limb Deficiency - Split Hand and Foot (Q71.6, Q72.7) | NCBDDD | CDC
Robinow syndrome: MedlinePlus Genetics
Weill-Marchesani syndrome - About the Disease - Genetic and Rare Diseases Information Center
Congenital Hand Deformities: Overview, Incidence, Embryology
Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI | Human Genome Variation
HKU Scholars Hub: PDZD2, a candidate gene for brachydactyly type A1, encodes a secreted protein that negatively modulates...
Weill-Marchesani syndrome: MedlinePlus Genetics
DailyMed - MYCOPHENOLATE MOFETIL tablet, film coated
DailyMed - MYCOPHENOLATE MOFETIL powder, for suspension
Keipert syndrome - Ontology Browser - Rat Genome Database
Spondyloperipheral dysplasia: MedlinePlus Genetics
10 Celebrities with Strange Physical Flaws - Listverse
Dermatology Online Journal
Orphanet: Thanatophoric dysplasia
Bone Rep Volume 19; 2023 Dec - PMC
Mild Campomelic Dysplasia: Report on a Case and Review - PubMed
- In isolated brachydactyly, the inheritance is mostly autosomal dominant with variable expressivity and penetrtance. (nih.gov)
- A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. (zfin.org)
- Brachydactyly type A1 is an autosomal dominant inherited disease. (the-medical-dictionary.com)
- Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) is an autosomal-dominant skeletal dysplasia characterised by metaphyseal flaring of the long bones , enlargement of the medial halves of the clavicles , maxillary hypoplasia, brachydactyly , dental anomalies and mild osteoporosis . (bvsalud.org)
- 5. Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome. (nih.gov)
- Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. (nih.gov)
- Brachydactyly is a medical term which literally means "shortness of the fingers and toes" (digits). (the-medical-dictionary.com)
- These individuals suffer brachydactyly a relative shortening of the fingers and toes, see picture) and severe hypertension, with systolic blood pressures often well greater than 200. (renalfellow.org)
- brachydactyly), with the exception of the first (big) toes. (medlineplus.gov)
Classification of brachydactyly1
- The Bell classification of brachydactyly (summarized in Temtamy and McKusick ) is a complex assessment of hand patterning - that usage of the word brachydactyly is independent of the use here. (nih.gov)
- The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. (nih.gov)
- In the above brachydactyly syndromes, short digits are the most prominent of the anomalies, but in many other syndromes (Down's syndrome, Rubinstein-Taybi syndrome, etc), brachydactyly is a minor feature compared to the other anomalies or problems comprising the syndrome. (the-medical-dictionary.com)
- One additional piece of evidence against the "hypetensive nephrosclerosis" hypothesis is the existence of a rare, autosomal recessive disorder termed "Hypertension/Brachydactyly Syndrome", the gene for which has yet to be identified. (renalfellow.org)
- Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay intellectual disability thin habitus with narrow shoulders mesomelic shortness of the arms craniofacial dysmorphism (e.g. long lower face maxillary hypoplasia beak nose short columella prognathia high arched palate obtuse mandibular angle) brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation mitral valve prolapse). (globalgenes.org)
- Newly diagnosed with Brachydactyly-mesomelia-intellectual disability-heart defects syndrome? (globalgenes.org)
- A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication. (bvsalud.org)
- 6. [Brachydactyly type A4 (brachymesophalangia II and V, Temtamy type). (nih.gov)
- 12. New skeletal dysplasia with unique brachydactyly. (nih.gov)
- The nature of genetic counseling depends both on the pattern of inheritance of the type of brachydactyly present in the family and on the presence or absence of accompanying symptoms. (nih.gov)
- When Do Symptoms of Brachydactyly type A3 Begin? (nih.gov)
- Type A2 is a very rare form of brachydactyly. (the-medical-dictionary.com)
- This pattern strongly sustains the diagnosis of brachydactyly type D described further in the Diagnosis Gallery . (medword.net)
- A rare type of brachydactyly]. (nih.gov)
- 7. Brachydactyly type C. (nih.gov)
- 13. [Type C hereditary brachydactyly]. (nih.gov)
- 8. Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations. (nih.gov)
- When Brachydactyly type x is used, this refers to the Bell classification patterns. (nih.gov)
- Brachydactyly (BD) essentially refers to short digits. (pacs.de)
- 11. A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly. (nih.gov)
- For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified. (nih.gov)
- When Brachydactyly of the hand is used, it solely refers to reduced length of the specified digits. (nih.gov)
- Prenatal diagnosis is usually not indicated for isolated forms of brachydactyly, but may be appropriate in syndromic forms. (nih.gov)
- Different types of brachydactyly are classified according to their clinical and radiographic features of phalangeal or metacarpal involvement. (pacs.de)
- There is significant micromelia with redundant skin folds and brachydactyly with a trident hand configuration is common. (orpha.net)
- In isolated brachydactyly, subtle changes elsewhere may be present. (nih.gov)
- It is hypothesized from the radiological appearance of patients at different ages that FDAB might result from subchondral pathology primarily affecting the heads of the phalanges, metacarpals, and metatarsals, with the arthropathy and brachydactyly being secondary effects. (nih.gov)
- A form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features. (cdc.gov)
- We have designated the condition familial digital arthropathy-brachydactyly (FDAB). (nih.gov)