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Brachial amelia, cleft lip, and holoprosencephaly, or Yim–Ebbin syndrome, [1] is a very rare multi-systemic genetic disorder which is characterized by brachial amelia (mainly that affecting the upper limbs) cleft lip, and forebrain defects such as holoprosencephaly.
[1] [2] Cleft lip and cleft palate can often be diagnosed during pregnancy with an ultrasound exam. [1] A cleft lip or palate can be successfully treated with surgery. [1] This is often done in the first few months of life for cleft lip and before eighteen months for cleft palate. [1] Speech therapy and dental care may also be needed. [1]
Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; Other names: Hartsfield syndrome [1] Specialty: Medical genetics: Diagnostic method: genetic testing, physical examination: Prevention: None: Prognosis: poor: Frequency: rare, about 35 cases have been described in the medical literature: Deaths: most patients are either stillborn or die ...
Pai syndrome, also known as Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome, is a very rare genetic disorder which is characterized by nervous system, cutaneous, ocular, nasal and bucal anomalies with facial dysmorphisms.
In some cases of autosomal dominant Opitz G/BBB syndrome, the disease is caused by a mutation in the SPECC1L gene (near the 22q11.2 gene), which helps make cytospin-A. Cytospin-A is a protein imperative to the formation of facial features and is often considered responsible for the cleft lip or palate that Opitz G/BBB syndrome patients will ...
Nasomaxillary dysplasia is caused by a development arrest at the junction of the lateral side of the nose and the maxilla, which results in a complete or non-complete cleft between the nose and the orbital floor (nasoocular cleft) or between the mouth, nose and the orbital floor (oronasal-ocular cleft). The development of the lip is normal.
The character of Castor carries "Anya," a stuffed car with its own cleft lip; the real Anya was ordered online by Shipp's wife long ago so that their son would have a doll that looked like him ...
The disease has high penetrance at about 96% but the phenotypic expression varies from lower lip pits with cleft lip and cleft palate to no visible abnormalities. [2] [4] Approximately 88% of VWS patients display lower lip pits, and in about 64% of cases lip pits are the only visible defect. Reported clefting covers a wide range including ...