Autosomal recessive amelia

A rare disorder characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.



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

Phenotype(s) retrieved from Orphanet

    Total: 13

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000046 Scrotal hypoplasia Very frequent (99-80%)
HP:0000202 Oral cleft Very frequent (99-80%)
HP:0000293 Full cheeks Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0001561 Polyhydramnios Very frequent (99-80%)
HP:0001671 Abnormal cardiac septum morphology Very frequent (99-80%)
HP:0006703 Aplasia/Hypoplasia of the lungs Very frequent (99-80%)
HP:0008736 Hypoplasia of penis Very frequent (99-80%)
HP:0009812 Amelia involving the upper limbs Very frequent (99-80%)
HP:0009827 Amelia Very frequent (99-80%)
HP:0010494 Acromelia of the lower limbs Very frequent (99-80%)
HP:0100335 Non-midline cleft lip Very frequent (99-80%)


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