Fibulo-ulnar hypoplasia-renal anomalies syndrome

Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.



Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 22

HPO ID Term Frequency
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000411 Protruding ear Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0001561 Polyhydramnios Very frequent (99-80%)
HP:0001622 Premature birth Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0003022 Hypoplasia of the ulna Very frequent (99-80%)
HP:0003026 Short long bone Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0006101 Finger syndactyly Very frequent (99-80%)
HP:0006492 Aplasia/Hypoplasia of the fibula Very frequent (99-80%)
HP:0010242 Aplasia of the proximal phalanges of the hand Very frequent (99-80%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000049 Shawl scrotum Occasional (29-5%)
HP:0000089 Renal hypoplasia Occasional (29-5%)
HP:0001195 Single umbilical artery Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0008736 Hypoplasia of penis Occasional (29-5%)
HP:0100016 Abnormality of mesentery morphology Occasional (29-5%)


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