Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expand
Facies (D019066)
Parent Node:
expand
Hernia, Diaphragmatic (D006548)
Parent Node:
expand
Limb Deformities, Congenital (D017880)
..Starting node
..expand
Fryns syndrome (C538070)

       Child Nodes:



 Sister Nodes: 
..expandAase Smith syndrome (C535332)
..expandAbruzzo Erickson syndrome (C535559)
..expandAcromegaloid facial appearance syndrome (C535655)
..expandAcromicric dysplasia (C535662) Child1
..expandAcropectoral syndrome (C535664)
..expandAcropectorovertebral Dysplasia, F-Form (C566319)
..expandAcrorenal syndrome recessive (C535666)
..expandAdams Oliver syndrome (C538225)
..expandArachnodactyly (D054119) Child10
..expandArms, Malformation of (C566258)
..expandATELOSTEOGENESIS, TYPE III (OMIM:108721)
..expandB-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..expandBagatelle Cassidy syndrome (C537796)
..expandBrachydactyly (D059327) Child54
..expandBrachymorphism-onychodysplasia-dysphalangism syndrome (C536242)
..expandBrachyolmia, recessive Hobaek type (C537099)
..expandCalabro syndrome (C537960)
..expandCamptobrachydactyly (C537967)
..expandCartwright Nelson Fryns syndrome (C535917)
..expandCerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..expandChondrodysplasia, acromesomelic, with genital anomalies (C537913)
..expandCOCOON SYNDROME (OMIM:613630)
..expandCongenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
..expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..expandCraniomicromelic Syndrome (C566522)
..expandDiaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull (C563380)
..expandEctrodactyly (C574275)
..expandEctrodactyly-Polydactyly (C565601)
..expandEctromelia (D004480) Child22
..expandFaciocardiomelic Dysplasia, Lethal (C565578)
..expandFetal akinesia syndrome, X-linked (C537921)
..expandFoot Deformities, Congenital (D005532) Child78
..expandFreire-Maia odontotrichomelic syndrome (C535637)
..expandFryns syndrome (C538070)
..expandGenee-Wiedemann syndrome (C537680)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHand and foot deformity with flat facies (C535626)
..expandHand Deformities, Congenital (D006228) Child134
..expandHanhart syndrome (C535629)
..expandHeart defects limb shortening (C535850)
..expandHypochondroplasia (C562937)
..expandHypoglossia-Hypodactylia (C566308)
..expandIchthyosis tapered fingers midline groove up (C536272)
..expandKaplan Plauchu Fitch syndrome (C536892)
..expandKaufman oculocerebrofacial syndrome (C537013)
..expandKrause-Kivlin syndrome (C537617)
..expandKuster syndrome (C538126)
..expandLaryngeal Atresia, Encephalocele, and Limb Deformities (C564620)
..expandLe Marec Bracq Picaud syndrome (C536997)
..expandLimb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..expandLimb Deficiencies, Distal, with Micrognathia (C565437)
..expandLimb-mammary syndrome (C535903)
..expandLower Extremity Deformities, Congenital (D038061) Child89
..expandLynch Lee Murday syndrome (C537713)
..expandMegalodactyly (C562546)
..expandMental retardation spasticity ectrodactyly (C537446)
..expandMesomelia-synostoses syndrome (C537348)
..expandMetaphyseal anadysplasia (C537351)
..expandMetaphyseal Anadysplasia 1 (C567545)
..expandMetaphyseal Anadysplasia 2 (C567771)
..expandMicrophthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
..expandMicrophthalmia, Syndromic 6 (C566440)
..expandMultiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..expandMultiple Pterygium Syndrome, X-Linked (C564072)
..expandNephrosis deafness urinary tract digital malformation (C536402)
..expandNeu Laxova syndrome (C536405)
..expandNievergelt syndrome (C536120)
..expandOculodigitoesophagoduodenal syndrome (C537734)
..expandPalant cleft palate syndrome (C538102)
..expandPenttinen-Aula syndrome (C536653)
..expandPointer syndrome (C536323)
..expandPolydactyly (D017689) Child61
..expandPostaxial Oligodactyly, Tetramelic (C566767)
..expandPowell Chandra Saal syndrome (C538357)
..expandPropping Zerres syndrome (C538052)
..expandProteus Syndrome (D016715) Child1
..expandRadial Ray Deficiency, X-Linked (C564523)
..expandRapadilino syndrome (C535288)
..expandReardon Hall Slaney syndrome (C535294)
..expandRenal dysplasia - limb defects syndrome (C537754)
..expandRobinow Syndrome, Autosomal Dominant (C562492)
..expandRobinow syndrome, autosomal recessive (C535863)
..expandRuzicka Goerz Anton syndrome (C537192)
..expandShort Stature-Obesity Syndrome (C564821)
..expandSplenogonadal fusion limb defects micrognatia (C537318)
..expandSplit hand foot deformity (C535777) Child2
..expandSplit hand foot deformity 1 (C567893)
..expandSplit-Hand And Split-Foot With Hypodontia (C566665)
..expandSplit-Hand Foot Malformation 2 (C564056) Child1
..expandSplit-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..expandSplit-Hand/Foot Malformation 4 (C565344)
..expandSplit-Hand/Foot Malformation 5 (C564674)
..expandSplit-Hand/Foot Malformation 6 (C567616)
..expandSplit-hand/foot malformation with long bone deficiency (C536425)
..expandSplit-Hand/Foot Malformation With Long Bone Deficiency 2 (C565199)
..expandSplit-Hand/Foot Malformation With Long Bone Deficiency 3 (C567245)
..expandSteinfeld Syndrome (C566655)
..expandStern Lubinsky Durrie syndrome (C537488)
..expandStratton-Parker Syndrome (C566105)
..expandSyndactyly (D013576) Child69
..expandTerminal Osseous Dysplasia and Pigmentary Defects (C564554)
..expandTetramelic Monodactyly (C566066)
..expandThanatophoric Dysplasia (D013796) Child8
..expandThoracic Dysplasia-Hydrocephalus Syndrome (C564774)
..expandThoraco limb dysplasia Rivera type (C536516)
..expandThoracomelic Dysplasia (C564773)
..expandUlnar Hypoplasia with Mental Retardation (C564757)
..expandUpper Extremity Deformities, Congenital (D038062) Child145
..expandVACTERL association (C536495)
..expandVACTERL association with hydrocephaly, X-linked (C536520)
..expandVACTERL hydrocephaly (C536521)
..expandViljoen Kallis Voges syndrome (C536349)
..expandWeyers acrofacial dysostosis (C536695)
..expandWright Dyck syndrome (C536749)
..expandYunis Varon syndrome (C536719)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4450
Name:Fryns syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D006548|MESH:D017880|MESH:D019066
TreeNumbers:C05.660.585/C538070 |C16.131.621.585/C538070 |C23.300.707.500/C538070 |C23.550.291.812/C538070
Synonyms:Diaphragmatic hernia, abnormal face, and distal limb anomalies |Moerman Van den berghe Fryns syndrome
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Pathology (anatomical condition)|Pathology (process)
Reference: MedGen: C538070
MeSH: C538070
OMIM: 229850;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0011039Abnormality of the helix
3 HP:0002251Aganglionic megacolon
4 HP:0001274Agenesis of corpus callosum
5 HP:0002023Anal atresia
6 HP:0001798Anonychia
7 HP:0000463Anteverted nares
8 HP:0009112Aplasia of the left hemidiaphragm
9 HP:0002139Arrhinencephaly
10 HP:0001631Atrial septal defect
11 HP:0000813Bicornuate uterus
12 HP:0000048Bifid scrotum
13 HP:0000581Blepharophimosis
14 HP:0000475Broad neck
15 HP:0000885Broad ribs
16 HP:0012385Camptodactyly
17 HP:0010310Chylothorax
18 HP:0000175Cleft palate
19 HP:0000204Cleft upper lip
20 HP:0000280Coarse facial features
21 HP:0000028Cryptorchidism
22 HP:0001305Dandy-Walker malformation
23 HP:0002247Duodenal atresia
24 HP:0006278Ectopic pancreatic tissue
25 HP:0002032Esophageal atresia
26 HP:0009937Facial hirsutism
27 HP:0000126Hydronephrosis
28 HP:0000316Hypertelorism
29 HP:0007036Hypoplasia of olfactory tract
30 HP:0007096Hypoplasia of the optic tract
31 HP:0000047Hypospadias
32 HP:0001249Intellectual disability
33 HP:0002566Intestinal malrotation
34 HP:0009473Joint contracture of the hand
35 HP:0001520Large for gestational age
36 HP:0000343Long philtrum
37 HP:0000369Low-set ears
38 HP:0002245Meckel diverticulum
39 HP:0000568Microphthalmia
40 HP:0000308Microretrognathia
41 HP:0001539Omphalocele
42 HP:0007759Opacification of the corneal stroma
43 HP:0001561PolyhydramniosHP:0040284
44 HP:0001748Polysplenia
45 HP:0001212Prominent fingertip pads
46 HP:0009623Proximal placement of thumb
47 HP:0002089Pulmonary hypoplasia
48 HP:0000104Renal agenesis
49 HP:0000107Renal cyst
50 HP:0001838Rocker bottom foot
51 HP:0001250Seizure
52 HP:0000049Shawl scrotum
53 HP:0009882Short distal phalanx of finger
54 HP:0000470Short neck
55 HP:0009778Short thumb
56 HP:0000954Single transverse palmar crease
57 HP:0001792Small nail
58 HP:0003826Stillbirth
59 HP:0010804Tented upper lip vermilion
60 HP:0000883Thin ribs
61 HP:0005257Thoracic hypoplasia
62 HP:0000073Ureteral duplication
63 HP:0001629Ventricular septal defect
64 HP:0000154Wide mouth
65 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants