ORPHA:280
Wolf-Hirschhorn syndrome
Synonyms: 4p- syndrome · Distal deletion 4p · Distal monosomy 4p · Telomeric deletion 4p
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Wolf-Hirschhorn syndrome | 4p- syndrome · Distal deletion 4p · Distal monosomy 4p · Telomeric deletion 4p |
| fr | Syndrome de Wolf-Hirschhorn | Délétion télomérique 4p · Monosomie distale 4p · Syndrome 4p- · Délétion distale 4p |
| de | Wolf-Hirschhorn-Syndrom | Chromosom 4p- Syndrom · Deletion 4p, distale · Monosomie 4p, distale |
| es | Síndrome de Wolf-Hirschhorn | Deleción terminal 4p · Monosomía terminal 4p · Síndrome 4p- |
| it | Sindrome di Wolf-Hirschhorn | Delezione 4p distale · Delezione 4p telomerica · Monosomia 4p distale · Sindrome 4p- |
| nl | Syndroom van Wolf-Hirschhorn | 4p-syndroom · Distale deletie 4p · Distale monosomie 4p · Telomerische deletie 4p · Wolf-Hirschhornsyndroom |
| pt | Síndrome Wolf-Hirschhorn | Deleção 4p · Monossomia 4p |
| pl | Zespół Wolfa i Hirschorna | Delecja telomerowa 4p · Dystalna delecja 4p · Dystalna monosomia 4p · Zespół 4p- |
| cs | Wolfův-Hirschhornův syndrom | Syndrom 4p- · Terminální delece 4p · Distální monozomie 4p · Telomerická delece 4p · Wolf-Hirschhornův syndrom |
| uk | Синдром Вольфа-Гіршхорна | 4p-синдром · Дистальна делеція 4p · Дистальна моносомія 4p · Делеція теломерної ділянки 4p |
| zh | Wolf-Hirschhorn综合征 | 4p末端缺失 |
| tr | Wolf-Hirschhorn sendromu | 4p sendromu · Distal delesyon 4p · Distal monozomi 4p · Telomerik delesyon 4p |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 194190 | E | validated | |
| ICD-10 | Q93.3 | NTBT | inclusion | validated |
| ICD-11 | LD44.41 | NTBT | index | validated |
| MONDO | 0008684 | E | validated | |
| MeSH | D054877 | E | validated | |
| UMLS | C1956097 | E | validated | |
| GARD | 7896 | E | validated | |
| MedDRA | 10050361 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:98642Chromosomal anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:166469Chromosomal anomaly with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:261884Partial deletion of the short arm of chromosome 4 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:85291X-linked intellectual disability, Wittwer type moved to · inactive
- ORPHA:98788Pitt-Rogers-Danks syndrome moved to · inactive
4
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NELFA | Candidate gene tested in | Not yet assessed | HGNC:12768 | ENSG00000185049 | 606026 | 4p16.3 | negative elongation factor complex member A | |
| CPLX1 | Role in the phenotype of | Assessed | HGNC:2309 | ENSG00000168993 | 605032 | 4p16.3 | complexin 1 | 26239400[PMID] |
| CTBP1 | Role in the phenotype of | Assessed | HGNC:2494 | ENSG00000159692 | 602618 | 4p16.3 | C-terminal binding protein 1 | 26239400[PMID] |
| LETM1 | Role in the phenotype of | Assessed | HGNC:6556 | ENSG00000168924 | 604407 | 4p16.3 | leucine zipper and EF-hand containing transmembrane protein 1 | |
| NSD2 | Role in the phenotype of | Assessed | HGNC:12766 | ENSG00000109685 | 602952 | 4p16.3 | nuclear receptor binding SET domain protein 2 | |
| PIGG | Role in the phenotype of | Assessed | HGNC:25985 | ENSG00000174227 | 616918 | 4p16.3 | phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | 26239400[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | 11480768[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | 11480768[PMID]_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
95 annotations · validated 2024-03-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000159 | Abnormal lip morphology | |
| HP:0000153 | Abnormality of the mouth | |
| HP:0000288 | Abnormality of the philtrum | |
| HP:0001251 | Ataxia | |
| HP:0001558 | Decreased fetal movement | |
| HP:0000268 | Dolichocephaly | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0002007 | Frontal bossing | |
| HP:0001263 | Global developmental delay | |
| HP:0009890 | High anterior hairline | |
| HP:0000348 | High forehead | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0000668 | Hypodontia | |
| HP:0000047 | Hypospadias | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002162 | Low posterior hairline | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001250 | Seizure | |
| HP:0000322 | Short philtrum | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001760 | Abnormal foot morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0007385 | Aplasia cutis congenita of scalp | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0001166 | Arachnodactyly | |
| HP:0001631 | Atrial septal defect | |
| HP:0000204 | Cleft upper lip | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000028 | Cryptorchidism | |
| HP:0002720 | Decreased circulating IgA level | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000958 | Dry skin | |
| HP:0011968 | Feeding difficulties | |
| HP:0000365 | Hearing impairment | |
| HP:0001028 | Hemangioma | |
| HP:0008830 | Hypoplastic pubic rami | |
| HP:0000612 | Iris coloboma | |
| HP:0002808 | Kyphosis | |
| HP:0000648 | Optic atrophy | |
| HP:0004467 | Preauricular pit | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0000508 | Ptosis | |
| HP:0000902 | Rib fusion | |
| HP:0006655 | Rib segmentation abnormalities | |
| HP:0000960 | Sacral dimple | |
| HP:0002650 | Scoliosis | |
| HP:0010109 | Short hallux | |
| HP:0009778 | Short thumb | |
| HP:0001362 | Skull defect | |
| HP:0002360 | Sleep abnormality | |
| HP:0001171 | Split hand | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000679 | Taurodontia | |
| HP:0002144 | Tethered cord | |
| Occasional (29-5%) | ||
| HP:0003363 | Abdominal situs inversus | |
| HP:0100022 | Abnormality of movement | |
| HP:0005264 | Abnormality of the gallbladder | |
| HP:0000078 | Abnormality of the genital system | |
| HP:0002715 | Abnormality of the immune system | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000151 | Aplasia of the uterus | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
| HP:0000389 | Chronic otitis media | |
| HP:0000175 | Cleft palate | |
| HP:0001519 | Disproportionate tall stature | |
| HP:0000501 | Glaucoma | |
| HP:0100790 | Hernia | |
| HP:0000485 | Megalocornea | |
| HP:0000639 | Nystagmus | |
| HP:0000939 | Osteoporosis | |
| HP:0000520 | Proptosis | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000488 | Retinopathy | |
| HP:0000647 | Sclerocornea | |
| HP:0000486 | Strabismus | |
| HP:0010464 | Streak ovary | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301362[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280
- This record as JSON: /data/d/280.json