Microcephaly-short stature-limb abnormalities syndrome
Synonyms: MISSLA
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare genetic multiple congenital anomalies syndrome characterized by severe microcephaly, intrauterine growth retardation, short stature and variable limb anomalies such as radial ray defects, short limbs, absent/hypoplastic patellae, syndactyly, brachydactyly and hypoplastic carpal or metacarpal bones. Craniofacial dysmorphism is characterized by long and broad nose, microstomia and micrognathia. Intellectual disability is mild when present. Cases with extremely severe phenotype with very short limbs and poor lung development are perinatally lethal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-short stature-limb abnormalities syndrome | MISSLA |
| fr | Syndrome de microcéphalie-petite taille-anomalies des membres | = en |
| de | Mikrozphalie-Kleinwuchs-Extremitätenanomalien-Syndrom | = en |
| es | Síndrome de microcefalia-talla baja-anomalías de las extremidades | = en |
| it | Sindrome da microcefalia, bassa statura e anomalie degli arti | = en |
| nl | Microcefalie - kleine gestalte - ledemaatanomalieën-syndroom | = en |
| pt | Síndrome de microcefalia-baixa estatura-anomalias dos membros | |
| pl | Zespół małogłowia, niskiego wzrostu i wad konczyn | = en |
| cs | Syndrom zahrnující mikrocefalii, malý vzrůst a abnormality končetin | = en |
| uk | Синдром мікроцефалії-аномалії росту та кінцівок | = en |
| zh | 小头畸形-身材矮小-四肢异常综合征 | = en |
| tr | Mikrosefali-kısa boy-ekstremite anormallikleri sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617604 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0060533 | E | validated | |
| UMLS | C3811554 | 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 (1):
- ORPHA:572761DONSON-related microcephaly-short stature-limb abnormalities spectrum
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DONSON | 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] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 29 cases | Worldwide | Case(s) | Validated | 28191891[PMID]_31320746[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28191891[PMID]_31320746[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/572773
- This record as JSON: /data/d/572773.json