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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.
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.
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 ...
In ICD-10-CM, cleft lip is encoded by Q36.0-Q36.9; cleft palate by Q35.7-Q35.9; and cleft lip with cleft palate by Q37.8-Q37.9. Because ICD-9-CM and ICD-10-CM systems are very generic and do not adequately convey the complexity of the various forms of CL/P, modifications to these coding systems were developed for use in epidemiologic ...
Ectrodactyly involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand–split foot malformation (SHFM). [9] The hands and feet of people with ectrodactyly are often described as "claw-like" and may include only the thumb and one finger (usually either the little finger, ring finger, or a syndactyly of the two) with similar ...
According to CDC, the prevalence of cleft palate in the United States is 6.35/10000 births and the prevalence of cleft lip with or without cleft palate is 10.63/10000 births. [79] The highest prevalence rates for cleft lip, either with or without cleft palate are reported for Native Americans and Asians .
[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 ...