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[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.
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 ...
Orofacial clefts may be associated with a syndrome (syndromic) or may not be associated with a syndrome (nonsyndromic). Syndromic clefts are part of syndromes that are caused by a variety of factors such as environment and genetics or an unknown cause. Nonsyndromic clefts, which are not as common as syndromic clefts, also have a genetic cause. [31]
ICF syndrome patients exhibit facial anomalies which include hypertelorism, low-set ears, epicanthal folds and macroglossia. [3] Other frequent symptoms observed in individuals with ICF syndrome include intellectual disability, recurrent and prolonged respiratory infections, and integumentary and digestive system infections. [4]
Cleft palate short stature vertebral anomalies, also known as Mathieu-De Broca-Bony syndrome, is a very rare multi-systemic genetic disorder which is characterized by congenital cleft palate, facial dysmorphisms, short stature and neck, vertebral abnormalities and intellectual disabilities.
Dental abnormalities associated with conditions of or affecting the human integumentary system Abnormality Condition(s) Pegged teeth: Hypohidrotic ectodermal dysplasia Incontinentia pigmenti Congenital syphilis: Pitted teeth: Herlitz variant of junctional epidermolysis bullosa Tuberous sclerosis Gorlin syndrome Tricho–dento–osseous syndrome
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A congenital lip pit or lip sinus is a congenital disorder characterized by the presence of pits and possibly associated fistulas in the lips. They are often hereditary, and may occur alone or in association with cleft lip and palate , termed Van der Woude syndrome .