Autosomal recessive distal osteolysis syndrome
historical
Synonyms: Distal osteolysis-short stature-intellectual disability syndrome · Petit-Fryns syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- historical
A rare primary osteolysis characterized by severe distal osteolysis, mild to moderate intellectual deficiency, short stature, and facial dysmorphism (including maxillary hypoplasia, relative exophthalmos, and broad nasal tip). Patients present with early-onset and rapidly progressive osteolysis, manifests as severe resorption abnormalities in the hands and feet with absence of the distal and middle phalanges. Distal ulnar and radial epiphyses may also be affected. Joint limitation and flexion contractures of the elbows and knees have also been reported. There have been no further descriptions in the literature since 1993.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive distal osteolysis syndrome | Distal osteolysis-short stature-intellectual disability syndrome · Petit-Fryns syndrome |
| fr | Syndrome d'ostéolyse distale autosomique récessif | Syndrome d'ostéolyse distale-petite taille-déficience intellectuelle · Syndrome de Petit-Fryns |
| de | Osteolyse-Syndrom, distales, autosomal-rezessives | Distale Osteolyse mit Kleinwuchs und Intelligenzminderung · Petit-Fryns-Syndrom |
| es | Síndrome de osteólisis distal autosómica recesiva | Síndrome de Petit-Fryns · Síndrome de osteólisis distal-talla baja-discapacidad intelectual |
| it | Sindrome da osteolisi distale, autosomica recessiva | Sindrome osteolisi distale-bassa statura-disabilità intellettiva · Sindrome Petit-Fryns |
| nl | Autosomaal recessief distale osteolyse-syndroom | Distale osteolyse - kleine gestalte - intellectuele achterstand-syndroom · Syndroom van Petit-Fryns |
| pt | Síndrome de osteólise distal autossómica recessiva | Síndrome Petit-Fryns · Síndrome de osteólise distal-baixa estatura-perturbação do desenvolvimento intelectual |
| pl | Autosomalny recesywny zespół osteolizy dystalnej | Osteoliza dystalna - niski wzrost - niepełnosprawność intelekualna · Zespół Petit i Frynsa |
| cs | Syndrom autozomálně recesivní distální osteolýzy | Syndrom zahrnující distální osteolýzu, malý vzrůst a mentální retardaci · Petitův-Frynsův syndrom · Petit-Frynsův syndrom |
| uk | Аутосомно-рецесивний синдром дистального остеолізу | Синдром дистального остеолізу - низькорослості - інтелектуальна недостатність · Синдром Пете-Френса |
| zh | 常染色体隐性远端骨质溶解综合征 | 远端骨溶解-身材矮小-智力障碍综合征 |
| tr | Otozomal resesif distal osteoliz sendromu | Petit-Fryns sendromu · Distal osteoliz-kısa boy-zihinsel yetersizlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 259610 | E | validated | |
| ICD-10 | M89.5 | NTBT | attributed | validated |
| ICD-11 | FB86.2 | NTBT | index | validated |
| MONDO | 0009810 | E | validated | |
| MeSH | C536052 | E | validated | |
| UMLS | C1850143 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93449Primary osteolysis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000455 | Broad nasal tip | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0011800 | Midface retrusion | |
| HP:0002797 | Osteolysis | |
| HP:0000520 | Proptosis | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0004322 | Short stature | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2776
- This record as JSON: /data/d/2776.json