Search results
Results from the WOW.Com Content Network
Van der Woude syndrome is inherited as an autosomal dominant disease caused by a mutation in a single gene with equal distribution between the sexes. 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.
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.
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 ...
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 ...
Cleft lip is about twice as common in males as females, while cleft palate without cleft lip is more common in females. [2] In 2017, it resulted in about 3,800 deaths globally, down from 14,600 deaths in 1990. [3] [4] Cleft lips are commonly known as hare-lips because of their resemblance to the lips of hares or rabbits. [5]
Malpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome, [1] is a rare congenital syndrome.It is characterized by facial clefting (any type of cleft in the bones and tissues of the face, including a cleft lip and palate), a caudal appendage (a "human tail"), [2] [3] growth deficiency, intellectual and developmental disability, and abnormalities ...
These abnormalities include a cleft lip, a cleft palate which is an opening in the roof of the mouth, widely spaced eyes (hypertelorism), sharp corners of the mouth that point upward, a broad nose that can include a flattened tip, along with several deformations of both the external and middle ear structures. This syndrome is restricted to the ...
These frequently include cleft lip and/or palate, body wall defects, malformed head, and defects of the neural tube, kidneys, and diaphragm. Facial clefts may be accompanied by other facial anomalies such as abnormally small jaw, and missing ears or nose.