Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Synonyms: SADDAN
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Childhood
- Status
- active
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the <i>FGFR3</i> gene; 4p16.3).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | SADDAN |
| fr | Syndrome d'achondroplasie sévère-retard de développement-acanthosis nigricans | = en |
| de | Schwere Achondroplasie-Entwicklungsverzögerung-Acanthosis nigricans-Syndrom | SADDAN-Dysplasie |
| es | Síndrome de acondroplasia grave-retraso del desarrollo-acantosis nigricans | = en |
| it | Sindrome acondroplasia grave -ritardo dello sviluppo-acanthosis nigricans | = en |
| nl | Ernstige achondroplasie - ontwikkelingsachterstand - acanthosis nigricans-syndroom | = en |
| pt | Síndrome de acondroplasia grave-perturbação do desenvolvimento-acantose nigricans | = en |
| pl | Ciężka achondroplazja - opóźnienie rozwoju - rogowacenie ciemne | = en |
| cs | Syndrom zahrnující achondroplázii, opoždění vývoje a acanthosis nigricans | = en |
| uk | Синдром тяжкої ахондроплазії-затримки розвитку-чорного акантозу | = en |
| zh | 严重软骨发育不全-发育迟缓-黑棘皮病综合征 | = en |
| tr | Ağır akondroplazi-gelişme geriliği-akantozis nigrikans sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616482 | E | validated | |
| ICD-10 | Q77.4 | NTBT | attributed | validated |
| ICD-11 | LD24.0Y | NTBT | attributed | validated |
| MONDO | 0014658 | E | validated | |
| UMLS | C2674173 | E | validated | |
| GARD | 9443 | E | validated | |
| MedDRA | 10082381 | 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:93420FGFR3-related chondrodysplasia
rare genetic diseases - ORPHA:79359Other epidermal disorder
rare skin diseases - ORPHA:79360Other genetic epidermal disease
rare genetic diseases - ORPHA:364536Primary bone dysplasia with micromelia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGFR3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3690 | ENSG00000068078 | 134934 | 4p16.3 | fibroblast growth factor receptor 3 | 10053006[PMID]_18076102[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 10053006[PMID]_18076102[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10053006[PMID]_18076102[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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0009118 | Aplasia/Hypoplasia of the mandible | |
| HP:0012444 | Brain atrophy | |
| HP:0012081 | Enlarged cerebellum | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0005871 | Metaphyseal chondrodysplasia | |
| HP:0011344 | Severe global developmental delay | |
| Frequent (79-30%) | ||
| HP:0000889 | Abnormality of the clavicle | |
| HP:0002980 | Femoral bowing | |
| HP:0010502 | Fibular bowing | |
| HP:0000252 | Microcephaly | |
| HP:0002982 | Tibial bowing | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 10053006[PMID]_10377013[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85165
- This record as JSON: /data/d/85165.json