DONSON-related microcephaly-short stature-limb abnormalities spectrum
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DONSON-related microcephaly-short stature-limb abnormalities spectrum | |
| fr | Spectre microcéphalie-petite taille-anomalies des membres associé à DONSON | |
| de | DONSON-assoziierte Mikrozphalie-Kleinwuchs-Extremitätenanomalien-Spektrum | |
| es | Espectro de microcefalia-talla baja-anomalías de las extremidades asociado a DONSON | |
| it | Spettro microcefalia-bassa statura-anomalie degli arti correlato a DONSON | |
| nl | DONSON-gerelateerd microcefalie - kleine gestalte - ledemaatanomalieën-spectrum | |
| pt | Espectro clínico de microcefalia-baixa estatura-anomalias dos membros DONSON-relacionada | |
| pl | Spektrum małogłowie-niski wzrost-wady kończyn związane z DONSON | |
| cs | DONSON-vázaná mikrocefalie, malý vzrůst a spektrum abnormalit končetin | |
| uk | Мікроцефалія-низькорослість-спектр аномалій кінцівок, повязані з DONSON | |
| zh | DONSON相关的小头畸形-身材矮小-四肢异常谱系 | |
| tr | DONSON-ilişkili mikrosefali-kısa boy ekstremite anormallikleri spektrumu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617604 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0035534 | E | validated | |
| UMLS | C5681722 | 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 (4):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:324761Microcephalic primordial dwarfism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:93440Slender bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| DONSON | ORPHA:572773Microcephaly-short stature-limb abnormalities syndrome | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2993 | ENSG00000159147 | 611428 | 21q22.11 | DNA replication fork stabilization factor DONSON | 28191891[PMID]_28630177[PMID]_31191207[PMID]_31320746[PMID] |
| DONSON | ORPHA:572768Microcephaly-micromelia syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:2993 | ENSG00000159147 | 611428 | 21q22.11 | DNA replication fork stabilization factor DONSON | 28191891[PMID]_28630177[PMID]_31191207[PMID]_31320746[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 51 cases | Worldwide | Case(s) | Validated | 31191207[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/572761
- This record as JSON: /data/d/572761.json