Lethal recessive chondrodysplasia

Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.



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

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0000774 Narrow chest Obligate (100%)
HP:0003026 Short long bone Obligate (100%)
HP:0003950 Flared elbow metaphyses Obligate (100%)
HP:0005616 Accelerated skeletal maturation Obligate (100%)
HP:0005789 Generalized osteosclerosis Obligate (100%)
HP:0009826 Limb undergrowth Obligate (100%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0001561 Polyhydramnios Very frequent (99-80%)
HP:0000158 Macroglossia Frequent (79-30%)
HP:0000969 Edema Frequent (79-30%)
HP:0002098 Respiratory distress Frequent (79-30%)
HP:0002983 Micromelia 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