Fibrochondrogenesis

Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.



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Narrow down the case reports



Total: 12 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
11
(4.0%)		 14566438
 Metatropic dysplasia lethal variants.
Hall CM, Elcioglu NH.
Pediatr Radiol. 2004;34(1):66-74.
Confusion
Bone and Bones Females Fetal Death Fetal Diseases Homo sapiens Infant Infant, Newborn Male Osteochondrodysplasias
11
(4.0%)		 9759906
 Prenatal ultrasonography: clinical and radiological findings in a boy with fibrochondrogenesis.
Megarbane A, Haddad S, Berjaoui L.
Am J Perinatol. 1998;15(7):403-7.
Intrauterine growth retardation
Bone and Bones Differential Diagnosis Fatal Outcome Females Homo sapiens Infant, Newborn Male Pregnancy Ultrasonography, Prenatal
        

Phenotype(s) retrieved from Orphanet

    Total: 29

HPO ID Term Frequency
HP:0000260 Wide anterior fontanel Very frequent (99-80%)
HP:0000311 Round face Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000520 Proptosis Very frequent (99-80%)
HP:0000772 Abnormality of the ribs Very frequent (99-80%)
HP:0000773 Short ribs Very frequent (99-80%)
HP:0000774 Narrow chest Very frequent (99-80%)
HP:0000885 Broad ribs Very frequent (99-80%)
HP:0000940 Abnormal diaphysis morphology Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001591 Bell-shaped thorax 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:0000160 Narrow mouth Frequent (79-30%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000364 Hearing abnormality Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000882 Hypoplastic scapulae Frequent (79-30%)
HP:0001804 Hypoplastic fingernail Frequent (79-30%)
HP:0002093 Respiratory insufficiency Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0001357 Plagiocephaly Occasional (29-5%)
HP:0001539 Omphalocele Occasional (29-5%)
HP:0002983 Micromelia Occasional (29-5%)
HP:0100490 Camptodactyly of finger Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0002652 Skeletal dysplasia 5
HP:0000926 Platyspondyly 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
COL11A1 collagen type XI alpha 1 chain 1301
COL11A2 collagen type XI alpha 2 chain 1302