Define hypertelorism. hypertelorism synonyms, hypertelorism pronunciation, hypertelorism translation, English dictionary definition of hypertelorism. n. Abnormal distance between two paired organs, especially the eyes
Frontonasal dysplasia (FND) is a congenital malformation of the midface. For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism (an increased distance between the eyes), a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele (an opening of the skull with protrusion of the brain) or V-shaped hair pattern on the forehead. The cause of FND remains unknown. FND seems to be sporadic (random) and multiple environmental factors are suggested as possible causes for the syndrome. However, in some families multiple cases of FND were reported, which suggests a genetic cause of FND. Midfacial malformations can be subdivided into two different groups. One group with hypertelorism, this includes FND. The other with hypotelorism (a decreased distance between the eyes), this includes holoprosencephaly (failure of development of the forebrain). In addition, a facial cleft ...
Answer: With regard to sequencing of the hypertelorism correction and the Lefort III surgery, there probably is not a right answer. Opinions will vary from surgeon to surgeon, and there are many factors that need to be considered. For instance, how significant is the hypertelorism? Does the child snore and have sleep apnea? If the child has sleep apnea, is it effectively being managed with CPAP or other strategies? Is the child being teased, and if so, what aspect of the childs appearance is attracting the negative attention? Are there problems with biting and chewing as a result of the poor midface growth and the relationship of the teeth? If there are no sleep or apnea concerns and the hypertelorism and appearance of the eyes seem to be the biggest concern, then correcting the hypertelorism might be the higher priority. If there are obstructive apnea and sleep concerns, then this might weigh in favor of doing the Lefort surgery first. It is my opinion that doing orbital surgery and a Lefort ...
HYPERTELORISM and INTELLECTUAL DISABILITY, PROFOUND related symptoms, diseases, and genetic alterations. Get the complete information with our medical
Gorlin RJ, Cohen MM, Hennekam RCM. "Opitz oculo-genito-laryngeal syndrome." Syndromes of the Head and Neck. (2001): 988-990 ...
A 7 year old male child with cleft soft palate, omphalocele, epispedias, posterior prominence of the skull, prominent forehead with high anterior hair line, dextraposition of the heart, right sided inguinal hernia, mental retardation, generalized hypotonia and flexion deformity of both toes and fingers presented to the paediatric clinic, Teaching Hospital Karapitiya, for the follow up management. Furthermore, the child had subtle dysmorphic features including, broad nasal bridge, hypertelorism and low set ears. He was the second child of the family and there were no other family history of congenital anomalies. The karyotype was 46XY. Mutations in chromosome bands 3p12-21, ZIC3 gene in human X chromosome and Wolf- Hirschhorn syndrome involving heterozygous deletion of 4p16.3 region (4p syndrome) can be presented with above clinical features and it is necessary to investigate the patient further for the genetic involvement.. ...
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Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason. Major symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched palate. Mental retardation, loss of muscle tone, and streaks of skin lacking color are often present.
Definition: Broad nasal bridge is a widening of the top part of the nose, it can be associated with certain genetic or congenital disorders. ...
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Sjoukje van der Zaag út Strobos is hjoed ús tiisdeitopper. Sy is nominearre troch har dochter Hinke. Neffens Hinke is har mem in echte topper. Se is dit jier 65 wurden, mar stiet noch altyd foar elkenien klear. Se sit yn de tsjerkeried, is âlderling, sit yn de skjinmakploech, presintearret wedstriden by de kuorbalklup, helpt by de bazaar en giet lâns de doarren foar it goede doel. Se sit wier gjin momint stil. En dêrom is Sjoukje hjoed mei rjocht ús Tiisdeitopper.. ...
De wittenskip dyt him dwaande hâldt mei de klassifikaasje fan libbensfoarmen wurdt taksonomy neamd. Ek de termen systematyk en kladistyk wurde hjir wol foar brûkt. De biologyske taksonomy giet werom op Carolus Linnaeus yn de 18e iuw en wie yn earste ynstânsje basearre op anatomyske fergeliking fan libbene wêzens, bisten, planten ensfh. Dit oarspronklike systeem dielde de wêzens yn yn soarten (species), skaaien (genus), famyljes ( familia), skiften (ordo), klassen (classis), stammen (phylum) en riken (regnum), mar der waard dêrby oannommen dat soarten ûnferoarlik wiene. Oer dizze yndieling ûntstie yn de 19e iuw in soad diskusje, omdat troch de evolúsjeteory fan Darwin oan dizze yndieling in nije diminsje tafoege waard, nammentlik dy fan stamferwantskip. Ek de stúdzje fan fossilen kaam yn dy tiid op. De faktor tiid en wannear der sprake is fan ferskillende soarten waarden belangrike ûnderwerpen fan diskusje. De klassike yndieling blykte op in soad punten net krekt te wêzen. Yn de ...
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Salah satu fitnah besar yang menimpa umat ini adalah fitnah taklid buta (mengekor), tasyabuh, menyerupai atau meniru yang tercela kepada adat-adat musuh Islam secara umum dan orang-orang yahudi dan nashara secara khusus. Tidak diragukan bahwa terjerumus ke dalam kubangan taklid adalah kekalahan dari dalam, terkecoh dan tertipu oleh penampilan semu dan terjerembab ke dalam kotoran hawa nafsu dan syahawat.. Jika umat telah tertunduk malu memandang sumber kemuliaan dan kemenangannya, ia mengambil dasar-dasar dan nilai-nilai umat yang tersesat, maka ketahuilah bahwa Kiamat sudah dekat.. Dari Abu Hurairah bahwa Rasulullah bersabda, "Kiamat tidak datang sehingga umatku mengikuti umat-umat sebelumnya sejengkal demi sejengkal, sehasta demi sehasta." Beliau ditanya, "Ya Rasulullah, orang Persia dan Romawi?" Nabi menjawab, "Lalu siapa lagi?" Diriwayatkan oleh al-Bukhari.. Dari Abu Said al-Khudri bahwa Rasulullah bersabda, "Demi Allah niscaya kalian akan mengikuti jalan hidup orang-orang sebelum kalian ...
Looking for online definition of G syndrome in the Medical Dictionary? G syndrome explanation free. What is G syndrome? Meaning of G syndrome medical term. What does G syndrome mean?
Looking for online definition of orbital hypertelorism in the Medical Dictionary? orbital hypertelorism explanation free. What is orbital hypertelorism? Meaning of orbital hypertelorism medical term. What does orbital hypertelorism mean?
Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widows peak hairline.. Other features of frontonasal dysplasia can include additional facial malformations, absence or malformation of the tissue that connects the left and right halves of the brain (the corpus callosum), and intellectual disability.. There are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms. In addition to the features previously described, each type of frontonasal dysplasia is associated ...
MalaCards based summary : X-Linked Opitz G/bbb Syndrome, also known as opitz syndrome, x-linked, is related to opitz gbbb syndrome, type i and opitz-gbbb syndrome. An important gene associated with X-Linked Opitz G/bbb Syndrome is MID1 (Midline 1). The drug Phytosterol has been mentioned in the context of this disorder. Affiliated tissues include heart ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Craniometaphyseal dysplasia, autosomal dominant
Roberts syndrome (RBS; MIM 268300) and SC phocomelia syndrome (MIM 269000) are autosomal recessive disorders caused by mutations in the ESCO2 (establishment of cohesion 1 homolog 2) gene, which encodes a protein belonging to the Eco1/Ctf7 family of acetyltransferases involved in establishing sister chromatid cohesion during S phase. Karyotyping reveals heterochromatin repulsion characteristic for RBS and SC phocomelia syndrome.. RBS is characterized by severe prenatal growth retardation, tetraphocomelia, craniofacial abnormalities and intellectual disability. The upper limbs are usually more severely affected than the lower limbs. Oligodactyly with thumb aplasia or hypoplasia can be seen. Craniofacial features include microcephaly, cleft lip and palate and hypertelorism. Severely affected infants may be stillborn or die shortly after birth.. SC phocomelia syndrome is a milder phenotype with lesser degree of limb reduction and growth retardation. Additional findings include flexion contractures, ...
We describe a recessively inherited frontonasal malformation characterized by a distinctive facial appearance, with hypertelorism, wide nasal bridge, short nasal ridge, bifid nasal tip, broad columella, widely separated slit-like nares, long philtrum with prominent bilateral swellings, and midline notch in the upper lip and alveolus. Additional recurrent features present in a minority of individuals have been upper eyelid ptosis and midline dermoid cysts of craniofacial structures. Assuming recessive inheritance, we mapped the locus in three families to chromosome 1 and identified mutations in ALX3, which is located at band 1p13.3 and encodes the aristaless-related ALX homeobox 3 transcription factor. In total, we identified seven different homozygous pathogenic mutations in seven families. These mutations comprise missense substitutions at critical positions within the conserved homeodomain as well as nonsense, frameshift, and splice-site mutations, all predicting severe or complete loss of function.
Orofaciodigital syndrome I (OFD1; MIM 311200) is an X-linked dominant disease with lethality in males. It is characterized by facial, oral cavity and digit malformations. Typical facial and oral cavity findings include hypertelorism, broad nasal bridge, hypoplastic malar cartilage, small median cleft or pseudocleft of the upper lip, hyperplastic oral frenuli, cleft palate, bifid or lobulated tongue, lingual hamartomas, and hypodontia. Hand malformations consist of brachydactyly, syndactyly, clinodactyly, and occasionally polydactyly. Approximately 50% of the patients have polycystic kidneys. Fibrocystic disease of the liver and pancreas can be present. Central nervous system malformations are variable and found in about 40% of the patients. OFD1 is caused by mutations in the OFD1 gene, which codes for oral-facial-digital syndrome 1 protein. Mutations in this gene can also cause Simpson-Golabi-Behmel syndrome, type 2 (SGBS2; MIM 300209) and Joubert syndrome 10 (JBTS10; MIM 300804).. Read less ...
Background Mutations in the X-linked MID1gene are responsible for Opitz G/BBB syndrome, a malformation disorder of developing midline structures. Previous Northern blot analyses revealed the...
CMD is a very rare bone disorder that affects mostly bones of the head (=cranial bones) but also long (=tubular) bones. Therefore, CMD has been added to the class of craniotubular bone disorders. There are a number of disorders in this group and sometimes they are difficult to distinguish. Typical signs for CMD are the lifelong bone deposition in bones of the face and head (=progressive craniofacial hyperostosis) and the widening of the ends of long bones (=metaphyseal flaring). Typical facial characteristics are wide-set eyes and a prominent jaw (=mandible). CMD is sometimes diagnosed in infants. The best way to confirm diagnosis is by molecular genetics ...
One of my earliest memories of my first Universal Parliament was that of an older God being escorted out of the auditorium of Harriet Tubman because he was overcome with emotion over The Fathers death. The God was distilling and wildly yelling, "They killed my Father! They killed my Father!". It was the late 80s and personally I didnt understand the older Gods grief because Ive never personally met The Father, B.U.T. its obvious that The Father meant a whole lot to a lot of people-he was loved and I will forever honor him as the author of Supreme Math, Supreme Alphabet and specifically as the first one to escape from the prison house of the Big G and Little G syndrome that was synthesized in the N.O.I. teaching of Allah coming in the Person of Master Fard Muhammad. The Father by his actions essentially said, "If Allah came in the person of Fard and Fard is half original-Allah gotta be in the person of my black ass!" It took a whole lot of courage to deduce such a conclusion during a ...
MEDFORD/SOMERVILLE, MASS. (Embargoed until 7 PM EST, Feb. 10, 2016) -- Tufts University biologists have discovered the bioelectric mechanism by which the rare genetic disorder Andersen-Tawil syndrome (ATS) causes facial abnormalities, a finding that could lead to preventive measures and treatments for a host of disorders, from birth defects to cancer. The discovery appears
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MalaCards based summary : Osteoglophonic Dysplasia, also known as osteoglophonic dwarfism, is related to t cell immunodeficiency primary and ovarian epithelial cancer, and has symptoms including hypertelorism, intellectual disability and scoliosis. An important gene associated with Osteoglophonic Dysplasia is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Akt Signaling and Cytokine Signaling in Immune system. Affiliated tissues include bone, and related phenotypes are Condensed cis-Golgi and Decreased human cytomegalovirus (HCMV) strain AD169 replication ...
Bagatelle Cassidy syndrome is a very rare disease first described in 1995 in a boy with macrocephaly, hypertelorism, hearing loss, developmental delay and facial dysmorphism
This rare disease is characterized by episodic weakness, cardiac arrhythmias, and dysmorphic features (short stature, scoliosis, clinodactyly, hypertelorism, small or prominent low-set ears, micrognathia, and broad forehead). The cardiac arrhythmias are potentially serious and life threatening. They include long QT, ventricular ectopy, bidirectional ventricular arrhythmias, and tachycardia. For many years, the classification of this disorder was uncertain because episodes of weakness are associated with elevated, normal, or reduced levels of potassium during an attack. In addition, the potassium levels differ among kindreds but are consistent within a family. Inheritance is autosomal dominant, with incomplete penetrance and variable expressivity. The disease is caused by mutations of the inwardly rectifying potassium channel (Kir 2.1) gene that heighten muscle cell excitability. The treatment is similar to that for other forms of periodic paralysis and must include cardiac monitoring. The ...
Patients may look normal in the first years of life. The initial changes are characterized by unilateral fullness of the cheeks, most often starting during the second or third year of life (but later onset is possible). Eventually, both mandibular rami and angles are involved, along with the maxilla. The growth rate is fastest during the first 2 years, then slows down and finally regresses during puberty. Hypertelorism is a constant sign. There is also an association with hyperplasia of cervical lymph nodes. The teeth are often loose and irregularly positioned. Extragnathic skeletal involvement is rare. Conservative management is recommended because it is a benign, self-limited condition. However, curettage of tissue hindering nasal breathing or function of the tongue may be indicated. Surgery may be requested for cosmetic reasons. Patients are mentally normal. ...
Opitz, H G.; Opitz, U; Lemke, H; Huget, R; and Flad, H D., "Polyclonal stimulation of lymphocytes by macrophages." (1976). Subject Strain Bibliography 1976. 3102 ...
Dermal fillers are a pretty straightforward concept. Take a substance and inject it beneath a wrinkle, pushing the skin back up and removing the wrinkle. In other words, fill that wrinkle in, hence the name. Some fillers use naturally occurring hyaluronic acid to bind with water and plump up the area. Others use synthetic substances such as calcium microspheres to add supporting structure.. Fillers arent a new concept. It is thought that German physician Franz Neuber was the first doctor to use fillers. Neuber used a patients autologous fat taken from other areas of the body to fill out depressed facial defects. That was way back in the late 19th century!. Today it seems a new filler comes to the market every few months. Patients can get confused about which filler does what. Its important to note that fillers arent general purpose, but are formulated to target certain issues such as volume loss or wrinkles and creases.. At Dr. Laveys we are big fans of Restylane and Perlane. Both are made ...
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occupationalCategory --- how *exactly* do we want this coded text field to work? Do we expect pairs of numeric codes + labels? Are sites with alternate codings out of luck? This seems the most slippery question. There are initiatives eg. ESCO in a European context - see http://www.destree.be/esco/report.pdf - which might not be widely adopted yet in job listing sites, but which it might be damaging to casually ignore or accidentally undermine. Pragmatic suggestion: the field takes a pair of an alphanumeric code and a string label, and for now all we say is that those pairs are matched against schemes such as BLS O*NET-SOC, ESCO ...
Tinnitis is it konstant sûzjen mei lege en hege lûden yn de earen. De namme komt fan it Latynske Tinnitus Aurium, dat gerinkel yn de earen betsjut. In yn de útgeanswrâld brûkte term is piipstress. Tinnitus komt soms foar yn kombinaasje mei hyperakusis en misofony. It is gjin sykte, mar in symptoom. It hat te krijen mei de gehoarsenuw (nervus cochlearis) dyt sels in sinjaal ôfjout oan de harsens. Inkeld bekomt it fansels wer, mar meastentiids moatte jo dêr mei besykje troch de tiid te kommen. Yn Amearika is der lykwols via ynternet bepaalde medikaasje foar te besetten. Yn Nederlân kin der operatyf inkele triedden yn it brein ynbrocht wurde om in tsjinsinjaal ôf te jaan, wêrtrocht de rêst werom komme kin. ...
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Are you looking to learn more about the genetics of holoprosencephaly? If so, you have come to the right place. Here you will also learn more about the incidence, symptoms, and treatment of this condition.
X-linked Opitz G/BBB syndrome is caused by mutations in the MID1 gene. The MID1 gene provides instructions for making a protein called midline-1. This protein attaches (binds) to microtubules, which are rigid, hollow fibers that make up the cells structural framework (the cytoskeleton). Microtubules help cells maintain their shape, assist in the process of cell division, and are essential for the movement of cells (cell migration). Midline-1 assists in recycling certain proteins that need to be reused instead of broken down. MID1 gene mutations lead to a decrease in midline-1 function, which prevents protein recycling. The resulting accumulation of proteins impairs microtubule function, leading to problems with cell division and migration. It is unclear how these changes disrupt normal development and cause the signs and symptoms of Opitz G/BBB syndrome.. Autosomal dominant Opitz G/BBB syndrome is caused by changes in chromosome 22. Some affected individuals have a deletion of a small piece of ...
Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal. Hypertelorism should not be confused with telecanthus, in which the distance between the inner eye corners is increased but that of the outer eye corners remains unchanged. Therefore the distance between the pupils is normal. Hypertelorism is a symptom in a variety of syndromes, including Edwards syndrome (trisomy 18), 1q21.1 duplication syndrome, basal cell nevus syndrome, DiGeorge syndrome and Loeys-Dietz syndrome. Hypertelorism can also be seen in Apert syndrome, craniofrontonasal dysplasia, Noonan syndrome, neurofibromatosis, LEOPARD syndrome, Crouzon syndrome, Wolf-Hirschhorn syndrome, Andersen-Tawil syndrome, Waardenburg syndrome and cri du chat syndrome, along with piebaldism, ...
1. VegaH, WaisfiszQ, GordilloM, SakaiN, YanagiharaI, et al. (2005) Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet 37: 468-470.. 2. SchuleB, OviedoA, JohnstonK, PaiS, FranckeU (2005) Inactivation mutations in ESCO2 cause SC phocomelia and Roberts Syndrome: No phenotype-genotype correlation. Am J Hum Genet 77: 1117-1128.. 3. GordilloM, VegaH, TrainerAH, HouF, SakaiN, et al. (2008) The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet 17: 2172-2180.. 4. RudraS, SkibbensRV (2013) Cohesin codes - interpreting chromatin architecture and the many facets of cohesin function. J Cell Science 126: 31-41.. 5. MusioA, SelicorniA, FocarelliML, GervasiniC, MilaniD, et al. (2006) X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 38: 528-530.. 6. TonkinET, WangTJ, LisgoS, BamshadMJ, StrachanT (2004) NIPBL, encoding a ...
13:Verloes et al. (1992)} described a rare variant of frontonasal dysplasia (see FND1, {136760}), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet ...
Cooper and Hirschhorn first documented Wolf-Hirschhorn syndrome in 1961. They described a child with midline fusion defects, and subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4.
Genetic analysis and homology between the phenotypic alterations of the human Greig Cephalopolysyndactyly Syndrome (GCPS) and the mouse mutant extra-toes (Xt) have suggested a dominant mutation in the same gene of both species. Recently, the GLI3 gene, a member of the Kruppel-related zinc finger genes, has been proposed as a candidate gene for GCPS. We examined the expression of the mouse Gli3 gene in both Xt mutant animals and during normal mouse development. Northern and RNAase protection analysis of embryos revealed that Gli3 expression was reduced about 50% in heterozygous Xt/+ mice and completely absent in homozygous Xt/Xt mice. In addition, in situ analysis of wild-type mice documented Gli3 expression in the developing limb and brain, structures affected in Xt mutant mice. This pattern suggests an important function of the Gli3 gene during morphogenesis.. ...
The cardinal features consist of characteristic (fetal-like) facies, mesomelic shortening of the forearms, frontal bossing, hypertelorism, wide palpebral fissures, short upturned nose with anteverted nares, long philtrum, receding chin, brachydactyly, hypoplastic genitalia, and a normal karyotype. Intelligence is usually normal but delayed physical and mental development was noted in about 18%.
Cri du chat syndrome (CdCS or 5p-) is a rare genetic disorder in which a variable portion of the short arm of chromosome 5 is missing or deleted. In 1963 the disorder was first described by doctor Lejeune who observed abnormal cat-like cry in newborn. In French, Cri du chat means "cry of the cat".Cri du chat syndrome(cats cry). The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have peculier facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.. ...