Osteolysis syndrome, recessive

Preferred Label : Osteolysis syndrome, recessive;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance;

Description : Petit and Fryns (1986) described an apparently autosomal recessive form of distal osteolysis in the son and daughter of unaffected consanguineous parents. The hands and feet showed severe resorption abnormalities with absence of the distal and middle phalanges. There was distal muscular hypertrophy, and the skin of the volar part of the hands was loose without other peculiarities. The osteolysis had begun at an early age and was rapidly progressive. Changes were most pronounced in the phalanges but occurred also in the distal ulnar and radial epiphyses. Joint limitation and flexion contractures developed in the elbows and knees. X-ray changes were evident at age 7 years, and by age 9 almost complete disruption of the distal and middle phalanges of all fingers and toes had occurred. In addition to the osteolysis the patients were short in stature, had mild to moderate mental deficiency but satisfactory social adaptation, and characteristic facies: maxillary hypoplasia, relative exophthalmos, and broad nasal tip. The surviving sister, aged 57 years, was 146 cm tall. Neurologic examination was normal. Petit and Fryns (1986) suggested that the same facial features may be found in patients with multicentric osteolysis or carpal and tarsal osteolysis with autosomal dominant inheritance. *FIELD* RF 1. Petit, P.; Fryns, J.-P.: Distal osteolysis, short stature, mental retardation, and characteristic facial appearance: delineation of an autosomal recessive subtype of essential osteolysis. Am. J. Med. Genet. 25: 537-541, 1986. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 259610;

Details

Origin ID

259610;

UMLS CUI

C1850143;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive distal osteolysis syndrome [ICD-11 More detail]
- Osteolysis syndrome recessive [MeSH concept]
- osteolysis syndrome recessive [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Autosomal recessive distal osteolysis syndrome [ORDO Disease]
- Autosomal recessive distal osteolysis syndrome (disorder) [SNOMED CT concept]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Absent distal and middle phalanges [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad nasal tip [HPO term]
- Distal radial epiphyseal osteolysis [HPO term]
- Elbow flexion contracture [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Intellectual disability [HPO term]
- Juvenile onset [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Metacarpal osteolysis [HPO term]
- Osteolytic defects of the distal phalanges of the hand [HPO term]
- Osteolytic defects of the middle phalanges of the hand [HPO term]
- Osteolytic defects of the proximal phalanges of the hand [HPO term]
- Proptosis [HPO term]
- Short stature [HPO term]
Not associated HPO term(s)
- Abnormality of the tarsal bones [HPO term]
ORDO concept(s)
- Autosomal recessive distal osteolysis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive distal osteolysis syndrome [ORDO Disease]
- Autosomal recessive distal osteolysis syndrome (disorder) [SNOMED CT concept]
- Osteolysis syndrome recessive [MeSH concept]
- osteolysis syndrome recessive [MeSH Supplementary Concept]

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