Rhizomelic syndrome, Urbach type

Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.



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

Phenotype(s) retrieved from Orphanet

    Total: 26

HPO ID Term Frequency
HP:0000157 Abnormality of the tongue Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000260 Wide anterior fontanel Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0001061 Acne Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001177 Preaxial hand polydactyly Very frequent (99-80%)
HP:0001199 Triphalangeal thumb Very frequent (99-80%)
HP:0001376 Limitation of joint mobility Very frequent (99-80%)
HP:0001642 Pulmonic stenosis Very frequent (99-80%)
HP:0002815 Abnormality of the knee Very frequent (99-80%)
HP:0002827 Hip dislocation Very frequent (99-80%)
HP:0003063 Abnormality of the humerus Very frequent (99-80%)
HP:0003312 Abnormal form of the vertebral bodies Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0005930 Abnormality of epiphysis morphology Very frequent (99-80%)
HP:0008905 Rhizomelia Very frequent (99-80%)
HP:0009811 Abnormality of the elbow Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)
HP:0011362 Abnormal hair quantity Very frequent (99-80%)
HP:0100543 Cognitive impairment Very frequent (99-80%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0002808 Kyphosis 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