Bone dysplasia, lethal Holmgren type

Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.



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

Phenotype(s) retrieved from Orphanet

    Total: 39

HPO ID Term Frequency
HP:0000773 Short ribs Very frequent (99-80%)
HP:0000774 Narrow chest Very frequent (99-80%)
HP:0001824 Weight loss Very frequent (99-80%)
HP:0002093 Respiratory insufficiency Very frequent (99-80%)
HP:0002652 Skeletal dysplasia Very frequent (99-80%)
HP:0002823 Abnormality of femur morphology Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0008890 Severe short-limb dwarfism Very frequent (99-80%)
HP:0008905 Rhizomelia Very frequent (99-80%)
HP:0000348 High forehead Frequent (79-30%)
HP:0000364 Hearing abnormality Frequent (79-30%)
HP:0000457 Depressed nasal ridge Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000940 Abnormal diaphysis morphology Frequent (79-30%)
HP:0001172 Abnormal thumb morphology Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001373 Joint dislocation Frequent (79-30%)
HP:0001591 Bell-shaped thorax Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0002564 obsolete Malformation of the heart and great vessels Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0005930 Abnormality of epiphysis morphology Frequent (79-30%)
HP:0009811 Abnormality of the elbow Frequent (79-30%)
HP:0012368 Flat face Frequent (79-30%)
HP:0100255 Metaphyseal dysplasia Frequent (79-30%)
HP:0001155 Abnormality of the hand Occasional (29-5%)
HP:0001508 Failure to thrive Occasional (29-5%)
HP:0001631 Atrial septal defect Occasional (29-5%)
HP:0001639 Hypertrophic cardiomyopathy Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0001883 Talipes Occasional (29-5%)
HP:0001903 Anemia Occasional (29-5%)
HP:0002014 Diarrhea Occasional (29-5%)
HP:0002017 Nausea and vomiting Occasional (29-5%)
HP:0002205 Recurrent respiratory infections Occasional (29-5%)
HP:0002240 Hepatomegaly Occasional (29-5%)
HP:0005989 Redundant neck skin Occasional (29-5%)
HP:0100790 Hernia Occasional (29-5%)


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