Holoprosencephaly-craniosynostosis syndrome
historical
Synonyms: Camero-Lituania-Cohen syndrome · Genoa syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- historical
A rare syndromic craniosynostosis characterized by primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Additional clinical features may include craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay. There have been no further descriptions in the literature since 1993.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Holoprosencephaly-craniosynostosis syndrome | Camero-Lituania-Cohen syndrome · Genoa syndrome |
| fr | Syndrome d'holoprosencéphalie-craniosynostose | Syndrome de Camera-Lituania-Cohen · Syndrome de Gênes |
| de | Holoprosenzephalie-Kraniosynostose-Syndrom | Camera-Lituania-Cohen-Syndrom · Genoa-Syndrom |
| es | Síndrome de holoprosencefalia-craneosinostosis | Síndrome de Camero-Lituania-Cohen · Síndrome de Genoa |
| it | Oloprosencefalia - craniosinostosi | Sindrome di Camero-Lituania-Cohen · Sindrome di Genova |
| nl | Holoprosencefalie - craniosynostose-syndroom | Genoasyndroom · Syndroom van Camero-Lituania-Cohen |
| pt | Síndrome de holoprosencefalia-craniossinostose | Síndrome Camera-Lituania-Cohen · Síndrome Genoa |
| pl | Holoprozencefalia - kraniosynostoza | Zespół Camero, Lituania i Cohena · Zespół Genoa |
| cs | Syndrom zahrnující holoprosencefalii a kraniosynostózu | Janovský syndrom · Camerův-Lituaniův-Cohenův syndrom · Camer-Lituania-Cohenův syndrom |
| uk | Синдром голопрозенцефалії-краніосиностозу | Синдром Камеро-Літуаніа-Коена · Генуезький синдром |
| zh | 前脑无裂畸形-颅缝早闭综合征 | Camero-Lituania-Cohen综合征 |
| tr | Holoprosensefali-kraniyosinostoz sendromu | Cenova sendromu · Kamerun-Litvanya-Cohen sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601370 | E | validated | |
| ICD-10 | Q04.2 | NTBT | attributed | validated |
| ICD-11 | LD20.3 | NTBT | index | validated |
| MONDO | 0011059 | E | validated | |
| MeSH | C537684 | E | validated | |
| UMLS | C1832424 | E | validated | |
| GARD | 2454 | 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:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic 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 | 11 cases | Worldwide | Case(s) | Validated | 20104614[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20104614[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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000248 | Brachycephaly | |
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0100543 | Cognitive impairment | |
| HP:0002673 | Coxa valga | |
| HP:0001363 | Craniosynostosis | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000286 | Epicanthus | |
| HP:0000324 | Facial asymmetry | |
| HP:0001360 | Holoprosencephaly | |
| HP:0008479 | Hypoplastic vertebral bodies | |
| HP:0000601 | Hypotelorism | |
| HP:0001252 | Hypotonia | |
| HP:0000252 | Microcephaly | |
| HP:0001357 | Plagiocephaly | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0012745 | Short palpebral fissure | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0000582 | Upslanted palpebral fissure | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2163
- This record as JSON: /data/d/2163.json