Diaphragmatic defect-limb deficiency-skull defect syndrome
Synonyms: Froster-Huch syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diaphragmatic defect-limb deficiency-skull defect syndrome | Froster-Huch syndrome |
| fr | Syndrome de hernie diaphragmatique-anomalies des membres | Syndrome de Froster-Huch |
| de | Zwerchfelldefekt-Extremitätenfehlbildung-Schädelanomalie-Syndrom | Froster-Huch-Syndrom |
| es | Síndrome de defecto diafragmático-anomalía de las extremidades-defecto craneal | Síndrome de Froster-Huch |
| it | Ernia diaframmatica - anomalie degli arti | Sindrome di Froster-Huch |
| nl | Diafragmadefect - ledemaatdeficiëntie - schedeldefect-syndroom | Syndroom van Froster-Huch |
| pt | Síndrome de anomalia diafragmática-anomalia dos membros-anomalia craniana | Síndrome Froster-Huch |
| pl | Wada przepony - skrócenie kończyny - wada czaszki | Zespół Frostera i Hucha |
| cs | Syndrom zahrnující defekt bránice, chybění končetiny a defekt lebky | Frosterův-Huchův syndrom · Froster-Huchův syndrom |
| uk | Синдром діафрагмального дефекту-дефекту кінцівок- дефекту черепа | Синдром Фростера-Хача |
| zh | 膈肌缺损-肢体残缺-颅骨缺损综合征 | Froster-Huch综合征 |
| tr | Diyafragmatik defekt-ekstremite eksikliği-kafatası defekt sendromu | Froster-Huch sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601163 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0011007 | E | validated | |
| UMLS | C4303589 | E | validated | |
| GARD | 2397 | 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: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:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:180779Syndromic diaphragmatic or thoracic malformation
rare surgical thoracic 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 | 7 cases | Worldwide | Case(s) | Validated | 8779324[PMID]_19318925[PMID]_23448910[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8779324[PMID]_19318925[PMID]_23448910[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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002823 | Abnormality of femur morphology | |
| HP:0002814 | Abnormality of the lower limb | |
| HP:0000782 | Abnormality of the scapula | |
| HP:0002817 | Abnormality of the upper limb | |
| HP:0006492 | Aplasia/Hypoplasia of the fibula | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0006495 | Aplasia/Hypoplasia of the ulna | |
| HP:0006507 | Aplasia/hypoplasia of the humerus | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0004331 | Decreased skull ossification | |
| HP:0006101 | Finger syndactyly | |
| HP:0001539 | Omphalocele | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0100560 | Upper limb asymmetry | |
| Occasional (29-5%) | ||
| HP:0000008 | Abnormal morphology of female internal genitalia | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2141
- This record as JSON: /data/d/2141.json