ORPHA:2324
Osteopenia-intellectual disability-sparse hair syndrome
historical
Synonyms: Kaler-Garrity-Stern syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteopenia-intellectual disability-sparse hair syndrome | Kaler-Garrity-Stern syndrome |
| fr | Syndrome d'ostéopénie-déficience intellectuelle-hypotrichose | Syndrome de Kaler-Garrity-Stern |
| de | Osteopenie-Intelligenzminderung-spärliches Haar-Syndrom | Kaler-Garrity-Stern-Syndrom |
| es | Síndrome de osteopenia-discapacidad intelectual-cabello escaso | Síndrome de Kaler-Garrity-Stern |
| it | Sindrome osteopenia-disabilità intellettiva-capelli radi | Osteopenia - deficit cognitivo - ipotricosi · Sindrome Kaler-Garrity-Stern |
| nl | Osteopenie - intellectuele achterstand - dun haar-syndroom | Syndroom van Kaler-Garrity-Stern |
| pt | Síndrome de osteopenia-perturbação do desenvolvimento intelectual-cabelo rarefeito | Síndrome Kaler-Garrity-Stern |
| pl | Zespół osteopenii, niepełnosprawności intelektualnej i rzadkich włosów | Zespół Kalera, Garrity'ego i Sterna |
| cs | Kalerův-Garrityho-Sternův syndrom | Syndrom zahrnující osteopenii, mentální retardaci a řídké vlasy · Kaler-Garrity-Sternův syndrom |
| uk | Синдром остеопенії-інтелектуальної недостатності-рідкого волосся | Синдром Калера-Герріті-Стерна |
| zh | 骨质缺乏-智力障碍-脱发-综合征 | Kaler-Garrity-Stern 综合征 |
| tr | Osteopeni-zihinsel yetersizlik-seyrek saç sendromu | Kaler-Garrity-Stern sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 259690 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD24.KY | NTBT | index | validated |
| MONDO | 0009814 | E | validated | |
| MeSH | C537706 | E | validated | |
| UMLS | C1850140 | E | validated | |
| GARD | 354 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 1415349[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1415349[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
22 annotations · validated 2019-03-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002194 | Delayed gross motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002213 | Fine hair | |
| HP:0002007 | Frontal bossing | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000316 | Hypertelorism | |
| HP:0001382 | Joint hypermobility | |
| HP:0000938 | Osteopenia | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002757 | Recurrent fractures | |
| HP:0004482 | Relative macrocephaly | |
| HP:0002209 | Sparse scalp hair | |
| Occasional (29-5%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0000592 | Blue sclerae | |
| HP:0000414 | Bulbous nose | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001757 | High-frequency sensorineural hearing impairment | |
| HP:0000369 | Low-set ears | |
| HP:0000303 | Mandibular prognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0001250 | Seizure | |
| HP:0000954 | Single transverse palmar crease | |
Annotation source: 1415349[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2324
- This record as JSON: /data/d/2324.json