Pectus excavatum-macrocephaly-dysplastic nails syndrome
historical
Synonyms: Zori-Stalker-Williams syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- historical
Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pectus excavatum-macrocephaly-dysplastic nails syndrome | Zori-Stalker-Williams syndrome |
| fr | Syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale | Syndrome de Zori-Stalker-Williams |
| de | Pectus excavatum-Makrozephalie-Nageldysplasie-Syndrom | Zori-Stalker-Williams-Syndrom |
| es | Síndrome de pectus excavatum-macrocefalia-displasia ungueal | Síndrome de Zori-Stalker-Williams |
| it | Pectus excavatum -macrocefalia -displasia ungueale | Sindrome di Zori-Stalker-Williams |
| nl | Pectus excavatum - macrocefalie - dysplastische nagels-syndroom | Syndroom van Zori-Stalker-Williams |
| pt | Síndrome de pectus escavatum-macrocefalia-displasia das unhas | Síndrome Zori-Stalker-Williams |
| pl | Klatka piersiowa lejkowata - wielkogłowie - dysplastyczne paznokcie | Zespół Zori, Stalkera i Williamsa |
| cs | Syndrom zahrnující pectus excavatum, makrocefalii a dysplastické nehty | Zoriho-Stalkerův-Williamsův syndrom · Zori-Stalker-Williamsův syndrom |
| uk | Синдром лійкоподібної деформації грудної клітки-макроцефалії-диспластичних нігтів | Синдром Зорі-Сталкера-Вільямса |
| zh | 漏斗胸-大头畸形-指甲发育不良综合征 | Zori-Stalker-Williams综合征 |
| tr | Pektus ekskavatum-makrosefali-displastik tırnak sendromu | Zori-Stalker-Williams sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600399 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| MONDO | 0010883 | E | validated | |
| MeSH | C536728 | E | validated | |
| UMLS | C2931302 | E | validated | |
| GARD | 374 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:79370Syndromic nail anomaly
rare genetic diseases; rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| 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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000337 | Broad forehead | |
| HP:0000256 | Macrocephaly | |
| Occasional (29-5%) | ||
| HP:0000271 | Abnormality of the face | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0001252 | Hypotonia | |
| HP:0000272 | Malar flattening | |
| HP:0002164 | Nail dysplasia | |
| HP:0000767 | Pectus excavatum | |
| HP:0011220 | Prominent forehead | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0003196 | Short nose | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2835
- This record as JSON: /data/d/2835.json