Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 18

HPO ID Term Frequency
HP:0001839 Split foot Very frequent (99-80%)
HP:0002937 Hemivertebrae Very frequent (99-80%)
HP:0009767 Aplasia/Hypoplasia of the phalanges of the hand Very frequent (99-80%)
HP:0010173 Aplasia/Hypoplasia of the phalanges of the toes Very frequent (99-80%)
HP:0000055 Abnormality of female external genitalia Frequent (79-30%)
HP:0001163 Abnormality of the metacarpal bones Frequent (79-30%)
HP:0001555 Asymmetry of the thorax Frequent (79-30%)
HP:0001562 Oligohydramnios Frequent (79-30%)
HP:0001643 Patent ductus arteriosus Frequent (79-30%)
HP:0001770 Toe syndactyly Frequent (79-30%)
HP:0001798 Anonychia Frequent (79-30%)
HP:0002089 Pulmonary hypoplasia Frequent (79-30%)
HP:0002644 Abnormality of pelvic girdle bone morphology Frequent (79-30%)
HP:0003042 Elbow dislocation Frequent (79-30%)
HP:0004320 Vaginal fistula Frequent (79-30%)
HP:0006101 Finger syndactyly Frequent (79-30%)
HP:0008678 Renal hypoplasia/aplasia Frequent (79-30%)
HP:0012621 Persistent cloaca Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID