ORPHA:2059
Fryns syndrome
Synonyms: Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomaly syndrome characterized by congenital diaphragmatic hernia (CDH) and pulmonary hypoplasia, distal limb hypoplasia and facial anomalies in addition to variable expression of additional birth defects.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fryns syndrome | Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome |
| fr | Syndrome de Fryns | Syndrome de hernie diaphragmatique-dysmorphie faciale |
| de | Fryns-Syndrom | Zwerchfellhernie-Gesichtsdysmorphien-distale Gliedmaßenanomalien-Syndrom |
| es | Síndrome de Fryns | Síndrome de hernia diafragmática-dismorfia facial-anomalías de las extremidades distales |
| it | Sindrome di Fryns | Sindrome ernia diaframmatica-dismorfismi facciali-anomalie distali degli arti · Ernia diaframmatica - anomalie facciali |
| nl | Syndroom van Fryns | Hernia diaphragmatica - faciale dysmorfie - distale ledemaatanomalieën-syndroom |
| pt | Síndrome Fryns | Síndrome de hérnia diafragmática-face peculiar-anomalias distais dos membros |
| pl | Zespół Frynsa | Przepuklina przeponowa - nieprawidłowa twarz - wady dystalnych części kończyn |
| cs | Frynsův syndrom | Syndrom zahrnující diafragmatickou hernii, abnormální obličej a anomálie distálních končetin |
| uk | Синдром Фрінса | Синдром діафрагмальної грижи - аномальних аномалій обличчя та кінцівок |
| zh | Fryns综合征 | Fryns综合征 |
| tr | Fryns sendromu | Diyafragma herni-anormal yüz-distal ekstremite anomalileri sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 229850 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0009253 | E | validated | |
| MeSH | C538070 | E | validated | |
| UMLS | C0220730 | E | validated | |
| GARD | 3699 | E | validated | |
| MedDRA | 10075223 | 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 (3):
- 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:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIGN | Disease-causing germline mutation(s) in | Assessed | HGNC:8967 | ENSG00000197563 | 606097 | 18q21.33 | phosphatidylinositol glycan anchor biosynthesis class N | 27038415[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 7 / 100 000 | France | Value and class | Validated | 2650934[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 7 / 100 000 | Europe | Value and class | Validated | 2650934[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.
6
HPO phenotypes
51 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
| HP:0000337 | Broad forehead | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000218 | High palate | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0001249 | Intellectual disability | |
| HP:0000343 | Long philtrum | |
| HP:0000347 | Micrognathia | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0011344 | Severe global developmental delay | |
| HP:0000470 | Short neck | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000463 | Anteverted nares | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000280 | Coarse facial features | |
| HP:0007957 | Corneal opacity | |
| HP:0000028 | Cryptorchidism | |
| HP:0000316 | Hypertelorism | |
| HP:0000161 | Median cleft lip | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0001561 | Polyhydramnios | |
| HP:0001250 | Seizure | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0000474 | Thickened nuchal skin fold | |
| HP:0002119 | Ventriculomegaly | |
| HP:0006610 | Wide intermamillary distance | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0012303 | Abnormal aortic arch morphology | |
| HP:0001679 | Abnormal aortic morphology | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0002023 | Anal atresia | |
| HP:0000813 | Bicornuate uterus | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0002247 | Duodenal atresia | |
| HP:0004397 | Ectopic anus | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000126 | Hydronephrosis | |
| HP:0000047 | Hypospadias | |
| HP:0002566 | Intestinal malrotation | |
| HP:0000568 | Microphthalmia | |
| HP:0000774 | Narrow chest | |
| HP:0001539 | Omphalocele | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2059
- This record as JSON: /data/d/2059.json