Abnormalities of the fingers and toes have also been reported. These may include webbing or fusion of the fingers and toes (syndactyly). The severity of the syndactyly may be variable, ranging from webbing of skin and other soft tissues to fusion of bone within the affected fingers or toes. Affected individuals can also have extra fingers and/or toes (polydactyly). In addition, the fingers and toes may appear unusually short (brachydactyly), particularly due to abnormalities of the bones within the hands and feet.Some individuals may have additional physical abnormalities including delayed bone age, incomplete closure of the roof of the mouth (cleft palate), and a dislocated elbow. In some affected males, the testes may fail to descend into the scrotum (cryptorchidism). In one report, skin and teeth abnormalities were also noted.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Clinodactyly of the 5th finger||90%|
|Neurological speech impairment||90%|
|Prominent nasal bridge||90%|
|Underdeveloped nasal alae||90%|
|Delayed skeletal maturation||50%|
|Single transverse palmar crease||50%|
|2-4 toe syndactyly||-|
|Autosomal recessive inheritance||-|
|Decreased body weight||-|
|Intrauterine growth retardation||-|
|Postnatal growth retardation||-|
|Thin vermilion border||-|
|Ventricular septal defect||-|
|Wide nasal bridge||-|
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Please could you send me any information you have on Filippi syndrome or let me know where I can obtain information on it? See answer