Ulbright-Hodes syndrome

Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.



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

Phenotype(s) retrieved from Orphanet

    Total: 44

HPO ID Term Frequency
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000036 Abnormality of the penis Frequent (79-30%)
HP:0000089 Renal hypoplasia Frequent (79-30%)
HP:0000113 Polycystic kidney dysplasia Frequent (79-30%)
HP:0000160 Narrow mouth Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000233 Thin vermilion border Frequent (79-30%)
HP:0000269 Prominent occiput Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000772 Abnormality of the ribs Frequent (79-30%)
HP:0000773 Short ribs Frequent (79-30%)
HP:0000811 Abnormal external genitalia Frequent (79-30%)
HP:0000879 Short sternum Frequent (79-30%)
HP:0000883 Thin ribs Frequent (79-30%)
HP:0001195 Single umbilical artery Frequent (79-30%)
HP:0001562 Oligohydramnios Frequent (79-30%)
HP:0001762 Talipes equinovarus Frequent (79-30%)
HP:0002009 Potter facies Frequent (79-30%)
HP:0002089 Pulmonary hypoplasia Frequent (79-30%)
HP:0002098 Respiratory distress Frequent (79-30%)
HP:0002107 Pneumothorax Frequent (79-30%)
HP:0002878 Respiratory failure Frequent (79-30%)
HP:0002984 Hypoplasia of the radius Frequent (79-30%)
HP:0002990 Fibular aplasia Frequent (79-30%)
HP:0003027 Mesomelia Frequent (79-30%)
HP:0003041 Humeroradial synostosis Frequent (79-30%)
HP:0003309 Ovoid thoracolumbar vertebrae Frequent (79-30%)
HP:0003561 Birth length less than 3rd percentile Frequent (79-30%)
HP:0003683 Large beaked nose Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0005792 Short humerus Frequent (79-30%)
HP:0006495 Aplasia/Hypoplasia of the ulna Frequent (79-30%)
HP:0008665 Clitoral hypertrophy Frequent (79-30%)
HP:0008683 Enlarged labia minora Frequent (79-30%)
HP:0008846 Severe intrauterine growth retardation Frequent (79-30%)
HP:0008897 Postnatal growth retardation Frequent (79-30%)
HP:0009800 Maternal diabetes Frequent (79-30%)
HP:0009829 Phocomelia Frequent (79-30%)
HP:0010049 Short metacarpal Frequent (79-30%)
HP:0011341 Long upper lip Frequent (79-30%)
HP:0040073 Abnormal forearm bone morphology Frequent (79-30%)
HP:0040111 Bilateral external ear deformity 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