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very rare, between 10-80 cases have been described in medical literature 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.
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 ...
[9] [10] Genetic causes are linked with most craniofacial syndromes, and CL/P and other orofacial clefts are recognized as heterogeneous disorders, meaning there are multiple recognized causes. [9] [11] Orofacial clefts have great phenotypic diversity, and their associated genetic environments have called for vast research and investigation.
Cleft palate, cleft lip or other midline cranio-facial defects. [4] Neural hearing impairment [3] Absence of one of the kidneys (unilateral renal agenesis) [3] Skeletal defects including split hand/foot (ectrodactyly), shortened middle finger (metacarpal) [3] or scoliosis [17] Manual synkinesis (mirror movements of hands) [3] Missing teeth ...
However, when growth of the mandibular process is impeded, a lip pit occurs. Lip pits begin to develop on day 36. Cleft lip begins to develop on day 40, and cleft palate emerges on day 50 of development. [3] There are three types of lip pits, which are classified according to their location: midline upper, comissural, and lower lip.
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 have.
Cleft lip/palate; Cleidocranial dysostosis; Club foot; Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome; Congenital diaphragmatic hernia (CDH) Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism; Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation ...
Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome [1] and split hand–split foot–ectodermal dysplasia–cleft syndrome [2]: 520 is a rare form of ectodermal dysplasia, an autosomal dominant disorder inherited as a genetic trait.