Autosomal dominant popliteal pterygium syndrome

A rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.



Input patient's signs and symptoms


Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(44.1%)		 6093671
 A case of facio-genito-popliteal syndrome.
Hamamoto J, Matsumoto T.
Ann Plast Surg. 1984;13(3):224-9.
Popliteal pterygium Lip pit
SMG1
Cleft Palate Females Homo sapiens Knee Phenotype Syndactyly Syndrome
2
(21.2%)		 10657453
 Facio-genito-popliteal syndrome presenting with bilateral choanal atresia and maxillary hypoplasia.
Vandeweyer E, Urbain FC, DeMey A.
Br J Plast Surg. 2000;53(1):65-7.
Popliteal pterygium
Airway Obstruction Choanal Atresia Cleft Palate Homo sapiens Infant, Newborn Male Maxillofacial Abnormalities Scrotum Syndrome X-Ray Computed Tomography
        

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000219 Thin upper lip vermilion Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0001387 Joint stiffness Very frequent (99-80%)
HP:0001770 Toe syndactyly Very frequent (99-80%)
HP:0002230 Generalized hirsutism Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000046 Scrotal hypoplasia Frequent (79-30%)
HP:0000048 Bifid scrotum Frequent (79-30%)
HP:0000059 Hypoplastic labia majora Frequent (79-30%)
HP:0000772 Abnormality of the ribs Frequent (79-30%)
HP:0001597 Abnormality of the nail Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0006101 Finger syndactyly Frequent (79-30%)
HP:0008288 Nonketotic hyperglycinemia Frequent (79-30%)
HP:0009754 Fibrous syngnathia Frequent (79-30%)
HP:0009755 Ankyloblepharon Frequent (79-30%)
HP:0009756 Popliteal pterygium Frequent (79-30%)
HP:0100267 Lip pit Frequent (79-30%)
HP:0100335 Non-midline cleft lip Frequent (79-30%)
HP:0000062 Ambiguous genitalia Occasional (29-5%)
HP:0000453 Choanal atresia Occasional (29-5%)
HP:0001171 Split hand Occasional (29-5%)
HP:0001328 Specific learning disability Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0009756 Popliteal pterygium 2
HP:0100267 Lip pit 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
IRF6 interferon regulatory factor 6 3664