Clinodactyly of the 5th finger

Symptom Information:

Symptom ID: HPO:0004209
Synonyms:
Bilateral fifth digit clinodactyly [HPO:0004209]
Bilateral fifth finger clinodactyly [HPO:0004209]
Clinodactyly of fifth digit [HPO:0004209]
Clinodactyly of the little finger [HPO:0004209]
Fifth finger clinodactyly [HPO:0004209]
Radial deviation of the 5th finger [HPO:0004209]
Fifth finger clinodactyly [Orphanet:20620]
Bilateral fifth digit clinodactyly [OMIM:Bilateral fifth digit clinodactyly]
Bilateral fifth finger clinodactyly [OMIM:Bilateral fifth finger clinodactyly]
Fifth finger clinodactyly [OMIM:Fifth finger clinodactyly]
Clinodactyly of fifth finger [Orphanet:20620]
Clinodactyly of fifth digit (rare) [OMIM:Clinodactyly of fifth digit (rare)]
Clinodactyly of fifth finger [OMIM:Clinodactyly of fifth finger]
Clinodactyly of fifth fingers [OMIM:Clinodactyly of fifth fingers]
Clinodactyly of fifth fingers (1/4 patients) [OMIM:Clinodactyly of fifth fingers (1/4 patients)]
Clinodactyly of fifth fingers (in some patients) [OMIM:Clinodactyly of fifth fingers (in some patients)]
Clinodactyly, fifth finger [OMIM:Clinodactyly, fifth finger]
Clinodactyly, fifth finger (rare) [OMIM:Clinodactyly, fifth finger (rare)]
Clinodactyly, fifth fingers [OMIM:Clinodactyly, fifth fingers]
Fifth finger clinodactyly (female) [OMIM:Fifth finger clinodactyly (female)]
Fifth finger clinodactyly (females) [OMIM:Fifth finger clinodactyly (females)]
Quality:
Cross references:
HPO:0011431 "Fetal fifth finger clinodactyly" [Orphanet:20620]
Orphanet:20620 "Clinodactyly of fifth finger" [Orphanet:20620]
OMIM: "Bilateral fifth digit clinodactyly" [OMIM:Bilateral fifth digit clinodactyly]
OMIM: "Bilateral fifth finger clinodactyly" [OMIM:Bilateral fifth finger clinodactyly]
OMIM: "Fifth finger clinodactyly" [OMIM:Fifth finger clinodactyly]
OMIM: "Clinodactyly of fifth digit (rare)" [OMIM:Clinodactyly of fifth digit (rare)]
OMIM: "Clinodactyly of fifth finger" [OMIM:Clinodactyly of fifth finger]
OMIM: "Clinodactyly of fifth fingers" [OMIM:Clinodactyly of fifth fingers]
OMIM: "Clinodactyly of fifth fingers (1/4 patients)" [OMIM:Clinodactyly of fifth fingers (1/4 patients)]
OMIM: "Clinodactyly of fifth fingers (in some patients)" [OMIM:Clinodactyly of fifth fingers (in some patients)]
OMIM: "Clinodactyly, fifth finger" [OMIM:Clinodactyly, fifth finger]
OMIM: "Clinodactyly, fifth finger (rare)" [OMIM:Clinodactyly, fifth finger (rare)]
OMIM: "Clinodactyly, fifth fingers" [OMIM:Clinodactyly, fifth fingers]
OMIM: "Fifth finger clinodactyly (female)" [OMIM:Fifth finger clinodactyly (female)]
OMIM: "Fifth finger clinodactyly (females)" [OMIM:Fifth finger clinodactyly (females)]
Is a (Direct Parents):
HPO         Radial deviation of finger
HPO         Deviation of the 5th finger
Orphanet Abnormality of the hand
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Abnormality of digit(HPO:0011297)
                      Abnormality of finger(HPO:0001167)
                         Deviation of finger(HPO:0004097)
                            Radial deviation of finger(HPO:0009466)
                               Clinodactyly of the 5th finger(HPO:0004209)
                            Deviation of the 5th finger(HPO:0009179)
                               Clinodactyly of the 5th finger(HPO:0004209)
                         Abnormality of the 5th finger(HPO:0004207)
                            Deviation of the 5th finger(HPO:0009179)
                               Clinodactyly of the 5th finger(HPO:0004209)
                   Abnormality of the upper limb(HPO:0002817)
                      Abnormality of the hand(HPO:0001155)
                         Deviation of the hand or of fingers of the hand(HPO:0009484)
                            Radial deviation of the hand or of fingers of the hand(HPO:0009485)
                               Radial deviation of finger(HPO:0009466)
                                  Clinodactyly of the 5th finger(HPO:0004209)
                            Deviation of finger(HPO:0004097)
                               Radial deviation of finger(HPO:0009466)
                                  Clinodactyly of the 5th finger(HPO:0004209)
                               Deviation of the 5th finger(HPO:0009179)
                                  Clinodactyly of the 5th finger(HPO:0004209)
                         Abnormality of finger(HPO:0001167)
                            Deviation of finger(HPO:0004097)
                               Radial deviation of finger(HPO:0009466)
                                  Clinodactyly of the 5th finger(HPO:0004209)
                               Deviation of the 5th finger(HPO:0009179)
                                  Clinodactyly of the 5th finger(HPO:0004209)
                            Abnormality of the 5th finger(HPO:0004207)
                               Deviation of the 5th finger(HPO:0009179)
                                  Clinodactyly of the 5th finger(HPO:0004209)
MedDRA:
Database Frequency: 288 / 7739
Resource:

All diseases associated with this symptom:

12q14 microdeletion syndrome (Orphanet:94063)
14q22q23 microdeletion syndrome (Orphanet:264200)
15q11q13 microduplication syndrome (Orphanet:238446)
15q13.3 microdeletion syndrome (Orphanet:199318)
17p13.3 microduplication syndrome (Orphanet:217385)
17q12 microduplication syndrome (Orphanet:261272)
17q21.31 microduplication syndrome (Orphanet:217340)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
19p13.12 microdeletion syndrome (Orphanet:254346)
19q13.11 microdeletion syndrome (Orphanet:217346)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
2q23.1 microdeletion syndrome (Orphanet:228402)
2q31.1 microdeletion syndrome (Orphanet:251014)
2q32q33 microdeletion syndrome (Orphanet:251019)
2q37 microdeletion syndrome (Orphanet:1001)
3C syndrome (Orphanet:7)
3M syndrome (Orphanet:2616)
3MC SYNDROME 1 (OMIM:257920)
3q29 microdeletion syndrome (Orphanet:65286)
48,XXXY syndrome (Orphanet:96263)
48,XXYY syndrome (Orphanet:10)
49,XXXXY syndrome (Orphanet:96264)
6q16 deletion syndrome (Orphanet:171829)
6q25 microdeletion syndrome (Orphanet:251056)
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES (OMIM:300887)
Aarskog-Scott syndrome (Orphanet:915)
Absence of fingerprints - congenital milia (Orphanet:1658)
Ackerman syndrome (Orphanet:2561)
Acrocallosal syndrome (Orphanet:36)
Acrofacial dysostosis, Catania type (Orphanet:1786)
Acrofacial dysostosis, Weyers type (Orphanet:952)
Alagille syndrome (Orphanet:52)
Alopecia - contractures - dwarfism - intellectual deficit (Orphanet:1005)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Ankyloblepharon - ectodermal defects - cleft lip/palate (Orphanet:1071)
Anonychia - microcephaly (Orphanet:1094)
Aplasia cutis congenita - intestinal lymphangiectasia (Orphanet:1116)
Arachnodactyly - intellectual deficit - dysmorphism (Orphanet:1130)
Arterial tortuosity syndrome (Orphanet:3342)
Ataxia - photosensitivity - short stature (Orphanet:1184)
Atrioventricular defect - blepharophimosis -radial defects (Orphanet:1352)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive facio-digito-genital syndrome (Orphanet:1974)
BRACHYDACTYLY, TYPE A3 (OMIM:112700)
Banki syndrome (Orphanet:1228)
Bardet-Biedl syndrome 17 (OMIM:615994)
Bardet-Biedl syndrome 4 (OMIM:615982)
Blepharophimosis - radioulnar synostosis (Orphanet:1256)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blepharophimosis-intellectual deficit syndrome, SBBYS type (Orphanet:3047)
Blepharophimosis-intellectual deficit syndrome, Verloes type (Orphanet:293725)
Bloom syndrome (Orphanet:125)
Bowen-Conradi syndrome (Orphanet:1270)
Brachydactyly - elbow wrist dysplasia (Orphanet:1275)
Brachydactyly type A1 (Orphanet:93388)
Brachydactyly type A2 (Orphanet:93396)
Brachydactyly type C (Orphanet:93384)
Brachydactyly-long thumb syndrome (Orphanet:2946)
Brachymorphism - onychodysplasia - dysphalangism (Orphanet:1292)
Brachyolmia, Maroteaux type (Orphanet:93302)
Branchio-oculo-facial syndrome (Orphanet:1297)
C syndrome (Orphanet:1308)
CATEL-MANZKE SYNDROME (OMIM:616145)
CHARGE syndrome (Orphanet:138)
CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
CORNELIA DE LANGE SYNDROME 3 (OMIM:610759)
CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carpenter syndrome (Orphanet:65759)
Catel-Manzke syndrome (Orphanet:1388)
Cerebellar ataxia - hypogonadism (Orphanet:1173)
Cerebro-costo-mandibular syndrome (Orphanet:1393)
Char syndrome (Orphanet:46627)
Cleft lip/palate - intestinal malrotation - cardiopathy (Orphanet:2001)
Cleidorhizomelic syndrome (Orphanet:1453)
Cohen syndrome (Orphanet:193)
Conductive deafness - ptosis - skeletal anomalies (Orphanet:3236)
Cornelia de Lange syndrome (Orphanet:199)
Cranioectodermal dysplasia (Orphanet:1515)
Craniofacial dysplasia-osteopenia syndrome (Orphanet:314555)
Craniofacial dyssynostosis (Orphanet:1516)
Craniofaciofrontodigital syndrome (Orphanet:363705)
Craniofrontonasal dysplasia (Orphanet:1520)
Craniosynostosis - dysmorphism - brachydactyly (Orphanet:1535)
DPAGT1-CDG (Orphanet:86309)
Dental ankylosis (Orphanet:1077)
Dermato-cardio-skeletal syndrome, Borrone type (Orphanet:1266)
Desbuquois syndrome (Orphanet:1425)
Diaphragmatic defect - limb deficiency - skull defect (Orphanet:2141)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Distal monosomy 10p (Orphanet:1580)
Distal monosomy 3p (Orphanet:1620)
Distal monosomy 6p (Orphanet:96125)
Distal monosomy 7q36 (Orphanet:1636)
Distal trisomy 18q (Orphanet:1716)
Down syndrome (Orphanet:870)
Dubowitz syndrome (Orphanet:235)
ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET (OMIM:129540)
EPIPHYSEAL DYSPLASIA, BAUMANN TYPE (OMIM:610797)
Ear-patella-short stature syndrome (Orphanet:2554)
Ermine phenotype (Orphanet:999)
Eye defects - arachnodactyly - cardiopathy (Orphanet:2725)
FIBROCHONDROGENESIS 1 (OMIM:228520)
Familial osteodysplasia, Anderson type (Orphanet:2769)
Fanconi anemia (Orphanet:84)
Feingold syndrome (Orphanet:1305)
Fetal minoxidil syndrome (Orphanet:1918)
Fibrochondrogenesis (Orphanet:2021)
Fibrodysplasia ossificans progressiva (Orphanet:337)
Filippi syndrome (Orphanet:3255)
Fine-Lubinsky syndrome (Orphanet:1272)
Floating-Harbor syndrome (Orphanet:2044)
Frontonasal dysplasia (Orphanet:250)
Fryns syndrome (Orphanet:2059)
Fuhrmann syndrome (Orphanet:2854)
Gordon syndrome (Orphanet:376)
Guttmacher syndrome (Orphanet:2957)
HUNTER-MACDONALD SYNDROME (OMIM:611962)
HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITALABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES (OMIM:614684)
Hallermann-Streiff syndrome (Orphanet:2108)
Hallux varus - preaxial polysyndactyly (Orphanet:2110)
Hand-foot-genital syndrome (Orphanet:2438)
Hennekam-Beemer syndrome (Orphanet:2135)
Hepatic fibrosis - renal cysts - intellectual deficit (Orphanet:2031)
Holoprosencephaly - craniosynostosis (Orphanet:2163)
Hydrocephalus - blue sclerae - nephropathy (Orphanet:2186)
Hypertelorism, Teebi type (Orphanet:1519)
Hypoplastic tibiae - postaxial polydactyly (Orphanet:3332)
Hypospadias - intellectual deficit, Goldblatt type (Orphanet:2261)
Imperforate oropharynx - costo vetebral anomalies (Orphanet:2759)
Intellectual deficit - hypotonia - skin hyperpigmentation (Orphanet:3050)
Intellectual deficit - myopathy - short stature - endocrine defect (Orphanet:3068)
Intellectual deficit - polydactyly - uncombable hair (Orphanet:3082)
Intellectual deficit - short stature - hypertelorism (Orphanet:3074)
Intellectual deficit - spasticity - ectrodactyly (Orphanet:1891)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual deficit, Wolff type (Orphanet:3080)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intellectual deficit, X-linked - seizures - psoriasis (Orphanet:3052)
Intellectual deficit, X-linked, Vitale type (Orphanet:85289)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Jacobsen syndrome (Orphanet:2308)
Johanson-Blizzard syndrome (Orphanet:2315)
KERATOCONUS POSTICUS CIRCUMSCRIPTUS (OMIM:244600)
Keipert syndrome (Orphanet:2662)
Keratosis palmaris et plantaris - clinodactyly (Orphanet:86919)
LIG4 syndrome (Orphanet:99812)
Lacrimo-auriculo-dento-digital syndrome (Orphanet:2363)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Low birth weight - dwarfism - dysgammaglobulinemia (Orphanet:2621)
Léri-Weill dyschondrosteosis (Orphanet:240)
MASA syndrome (Orphanet:2466)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MEIER-GORLIN SYNDROME 3 (OMIM:613803)
MEIER-GORLIN SYNDROME 5 (OMIM:613805)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III (OMIM:210730)
Macrocephaly - short stature - paraplegia (Orphanet:2427)
Maternal hyperthermia induced birth defects (Orphanet:2216)
Mesoaxial synostotic syndactyly with phalangeal reduction (Orphanet:157801)
Mesomelia-synostoses syndrome (Orphanet:2496)
Mesomelic dwarfism, Nievergelt type (Orphanet:2633)
Mesomelic dysplasia, Kantaputra type (Orphanet:1836)
Metaphyseal chondrodysplasia, Jansen type (Orphanet:33067)
Metatropic dysplasia (Orphanet:2635)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephalic primordial dwarfism, Dauber type (Orphanet:319675)
Microcephaly-cardiomyopathy syndrome (Orphanet:2515)
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome (Orphanet:329332)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Microphthalmia with limb anomalies (Orphanet:1106)
Microphthalmia, Lenz type (Orphanet:568)
Mietens syndrome (Orphanet:2557)
Miller-Dieker syndrome (Orphanet:531)
Moebius syndrome (Orphanet:570)
Mononen-Karnes-Senac syndrome (Orphanet:2565)
Monosomy 13q14 (Orphanet:1587)
Monosomy 22q13 (Orphanet:48652)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mulibrey nanism (Orphanet:2576)
Multiple epiphyseal dysplasia type 4 (Orphanet:93307)
Nail-patella syndrome (Orphanet:2614)
Night blindness - skeletal anomalies - dysmorphism (Orphanet:1390)
Non-distal monosomy 10q (Orphanet:1581)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Noonan syndrome (Orphanet:648)
OSLAM syndrome (Orphanet:2760)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Oculodentodigital dysplasia (Orphanet:2710)
Oculofaciocardiodental syndrome (Orphanet:2712)
Oliver syndrome (Orphanet:2920)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Orofaciodigital syndrome type 2 (Orphanet:2751)
Orofaciodigital syndrome type 8 (Orphanet:2755)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
PERMANENT MOLARS, SECONDARY RETENTION OF (OMIM:157950)
PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES (OMIM:602249)
Patent ductus arteriosus - bicuspid aortic valve - hand anomalies (Orphanet:228190)
Pelvis-shoulder dysplasia (Orphanet:2839)
Pelviscapular dysplasia (Orphanet:93333)
Penoscrotal transposition (Orphanet:2842)
Pentasomy X (Orphanet:11)
Peripheral dysostosis (Orphanet:1795)
Peters-plus syndrome (Orphanet:709)
Pfeiffer syndrome (Orphanet:710)
Pfeiffer-Palm-Teller syndrome (Orphanet:2871)
Pierre Robin syndrome - faciodigital anomaly (Orphanet:2888)
Postaxial polydactyly - dental and vertebral anomalies (Orphanet:2916)
Prader-Willi syndrome (Orphanet:739)
Primordial short stature - microdontia - opalescent and rootless teeth (Orphanet:46658)
Proteus syndrome (Orphanet:744)
Proximal symphalangism (Orphanet:3250)
Ptosis - upper ocular movement limitation - absence of lacrimal punctum (Orphanet:228396)
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia (Orphanet:71289)
Rasmussen-Johnsen-Thomsen syndrome (Orphanet:3023)
Recombinant 8 syndrome (Orphanet:96167)
Renal-genital-middle ear anomalies (Orphanet:1092)
Renpenning syndrome (Orphanet:3242)
Richieri Costa-Pereira syndrome (Orphanet:3102)
Ring chromosome 1 (Orphanet:1437)
Roberts syndrome (Orphanet:3103)
Robin sequence - oligodactyly (Orphanet:3104)
Roifman syndrome (Orphanet:353298)
Rubinstein-Taybi syndrome (Orphanet:783)
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (Orphanet:353281)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
Ruvalcaba syndrome (Orphanet:3121)
SECKEL SYNDROME 1 (OMIM:210600)
SECKEL SYNDROME 2 (OMIM:606744)
SHORT STATURE-OBESITY SYNDROME (OMIM:269870)
SHORT syndrome (Orphanet:3163)
SILVER-RUSSELL SYNDROME (OMIM:180860)
SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION (OMIM:182255)
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES (OMIM:612948)
Saethre-Chotzen syndrome (Orphanet:794)
Say-Barber-Miller syndrome (Orphanet:3132)
Schilbach-Rott syndrome (Orphanet:2353)
Seckel syndrome (Orphanet:808)
Short stature - valvular heart disease - characteristic facies (Orphanet:2868)
Silver-Russell syndrome (Orphanet:813)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Smith-Magenis syndrome (Orphanet:819)
Spastic paraplegia - nephritis - deafness (Orphanet:2820)
Spondylocarpotarsal synostosis (Orphanet:3275)
Stoll-Alembik-Finck syndrome (Orphanet:3200)
Summitt syndrome (Orphanet:3210)
Syndactyly - telecanthus - anogenital and renal malformations (Orphanet:140952)
Syndactyly type 2 (Orphanet:93403)
Syndactyly type 5 (Orphanet:93406)
Synostosis - microcephaly - scoliosis (Orphanet:3268)
Synpolydactyly type 1 (Orphanet:295195)
TALONAVICULAR COALITION (OMIM:186750)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Telecanthus - hypertelorism - strabismus - pes cavus (Orphanet:3293)
Temtamy syndrome (Orphanet:1777)
Tetralogy of Fallot (Orphanet:3303)
Tetrasomy 12p (Orphanet:884)
Tetrasomy X (Orphanet:9)
Thrombocytopenia - Robin sequence (Orphanet:3323)
Thrombocytopenia - absent radius (Orphanet:3320)
Toriello-Carey syndrome (Orphanet:3338)
Torticollis - keloids - cryptorchidism - renal dysplasia (Orphanet:3341)
Townes-Brocks syndrome (Orphanet:857)
Trichorhinophalangeal syndrome type 1 and 3 (Orphanet:77258)
Trigonocephaly - broad thumbs (Orphanet:3365)
Trigonocephaly - short stature - developmental delay (Orphanet:3369)
Trisomy 12p (Orphanet:1699)
Trisomy 17p (Orphanet:261290)
Trisomy 9p (Orphanet:236)
Trisomy X (Orphanet:3375)
Urban-Rogers-Meyer syndrome (Orphanet:3409)
Van Regemorter-Pierquin-Vamos syndrome (Orphanet:3419)
Van den Ende-Gupta syndrome (Orphanet:2460)
Velo-facial-skeletal syndrome (Orphanet:3424)
W syndrome (Orphanet:2804)
WARBURG MICRO SYNDROME 3 (OMIM:614222)
WT limb-blood syndrome (Orphanet:3466)
White forelock with malformations (Orphanet:2475)
Wiedemann-Steiner syndrome (Orphanet:319182)
Williams syndrome (Orphanet:904)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
Zunich-Kaye syndrome (Orphanet:3474)