Talipes equinovarus

Symptom Information:

Symptom ID: HPO:0001762
Synonyms:
Club feet [HPO:0001762]
Club foot [HPO:0001762]
Clubfeet [HPO:0001762]
Clubfoot [HPO:0001762]
Equinovarus [HPO:0001762]
Foot, talipes equinovarus [HPO:0001762]
Pes equinovarus [HPO:0001762]
Pes equinus [HPO:0001762]
Talipes varus [Orphanet:21640]
Adductus deformity of foot (finding) [Orphanet:21640]
Equinovarus deformity of foot (finding) [Orphanet:21640]
Congenital varus deformity of foot (disorder) [Orphanet:21640]
Adductus deformity of foot [Orphanet:21640]
Congenital talipes varus [Orphanet:21640]
Club feet [OMIM:Club feet]
Club foot [OMIM:Club foot]
Clubfeet [OMIM:Clubfeet]
Clubfoot [OMIM:Clubfoot]
Equinovarus [OMIM:Equinovarus]
Pes equinovarus [OMIM:Pes equinovarus]
Pes equinus [OMIM:Pes equinus]
Talipes equinovarus [OMIM:Talipes equinovarus]
Talipes-varus/metatarsal varus [Orphanet:21640]
Talipes equinovarus, congenital [HPO:0001762]
Talipes [Orphanet:21640]
Talipes equinovarus, congenital [Orphanet:21640]
Talipes varus, congenital [Orphanet:21640]
Talipes [MedDRA:10043101]
Club foot congenital [MedDRA:10043101]
Clubfoot [MedDRA:10043101]
Clubfoot (congenital) [MedDRA:10043101]
Congenital clubfoot [MedDRA:10043101]
Congenital metatarsus varus [MedDRA:10043101]
Congenital pes cavus [MedDRA:10043101]
Congenital valgus deformity of foot NOS [MedDRA:10043101]
Congenital varus deformity of foot NOS [MedDRA:10043101]
Fetal talipes [MedDRA:10043101]
Foetal talipes [MedDRA:10043101]
Metatarsus varus, congenital [MedDRA:10043101]
Other congenital valgus deformities of feet [MedDRA:10043101]
Other congenital varus deformities of feet [MedDRA:10043101]
Talipes calcaneovalgus [MedDRA:10043101]
Talipes cavus [MedDRA:10043101]
Talipes equines [MedDRA:10043101]
Talipes equinovarus [MedDRA:10043101]
Talipes equinovarus, congenital [MedDRA:10043101]
Talipes equinus [MedDRA:10043101]
Talipes valgus, congenital [MedDRA:10043101]
Talipes varus, congenital [MedDRA:10043101]
Talipes, unspecified [MedDRA:10043101]
Valgus deformities of feet, congenital [MedDRA:10043101]
Varus deformities of feet, congenital [MedDRA:10043101]
Talipes congenital [MedDRA:10043101]
Congenital valgus foot deformity [MedDRA:10043101]
Pes supinatus [MedDRA:10043101]
Club feet (27%) [OMIM:Club feet (27%)]
Club feet (in males) [OMIM:Club feet (in males)]
Club feet (in some patients) [OMIM:Club feet (in some patients)]
Club foot (in some patients) [OMIM:Club foot (in some patients)]
Clubbed feet [OMIM:Clubbed feet]
Clubfoot (1 patient) [OMIM:Clubfoot (1 patient)]
Clubfoot (in 2 sibs) [OMIM:Clubfoot (in 2 sibs)]
Clubfoot (in some patients) [OMIM:Clubfoot (in some patients)]
Pes equinovarus (1 patient) [OMIM:Pes equinovarus (1 patient)]
Talipes equinovarus (32%) [OMIM:Talipes equinovarus (32%)]
Talipes equinovarus (44%) [OMIM:Talipes equinovarus (44%)]
Talipes equinovarus (clubfoot) [OMIM:Talipes equinovarus (clubfoot)]
Talipes equinovarus (in some patients) [OMIM:Talipes equinovarus (in some patients)]
Talipes equinus [OMIM:Talipes equinus]
Quality:
Cross references:
HPO:0004696 "Talipes cavus equinovarus" [Orphanet:21640]
Orphanet:21640 "Talipes-varus/metatarsal varus" [Orphanet:21640]
OMIM: "Club feet" [OMIM:Club feet]
OMIM: "Club foot" [OMIM:Club foot]
OMIM: "Clubfeet" [OMIM:Clubfeet]
OMIM: "Clubfoot" [OMIM:Clubfoot]
OMIM: "Equinovarus" [OMIM:Equinovarus]
OMIM: "Pes equinovarus" [OMIM:Pes equinovarus]
OMIM: "Pes equinus" [OMIM:Pes equinus]
OMIM: "Talipes equinovarus" [OMIM:Talipes equinovarus]
OMIM: "Club feet (27%)" [OMIM:Club feet (27%)]
OMIM: "Club feet (in males)" [OMIM:Club feet (in males)]
OMIM: "Club feet (in some patients)" [OMIM:Club feet (in some patients)]
OMIM: "Club foot (in some patients)" [OMIM:Club foot (in some patients)]
OMIM: "Clubbed feet" [OMIM:Clubbed feet]
OMIM: "Clubfoot (1 patient)" [OMIM:Clubfoot (1 patient)]
OMIM: "Clubfoot (in 2 sibs)" [OMIM:Clubfoot (in 2 sibs)]
OMIM: "Clubfoot (in some patients)" [OMIM:Clubfoot (in some patients)]
OMIM: "Pes equinovarus (1 patient)" [OMIM:Pes equinovarus (1 patient)]
OMIM: "Talipes equinovarus (32%)" [OMIM:Talipes equinovarus (32%)]
OMIM: "Talipes equinovarus (44%)" [OMIM:Talipes equinovarus (44%)]
OMIM: "Talipes equinovarus (clubfoot)" [OMIM:Talipes equinovarus (clubfoot)]
OMIM: "Talipes equinovarus (in some patients)" [OMIM:Talipes equinovarus (in some patients)]
OMIM: "Talipes equinus" [OMIM:Talipes equinus]
UMLS:C0410773 "Adductus deformity of foot" [Orphanet:21640]
UMLS:C0158722 "Congenital talipes varus" [Orphanet:21640]
Is a (Direct Parents):
MedDRA Musculoskeletal and connective tissue disorders of limbs congenital
Orphanet Abnormality of the ankles
HPO         Talipes
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 the lower limb(HPO:0002814)
                      Abnormality of the foot(HPO:0001760)
                         Positional foot deformity(HPO:0005656)
                            Talipes(HPO:0001883)
                               Talipes equinovarus(HPO:0001762)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of limbs congenital(MedDRA:10028381)
          Talipes equinovarus(HPO:0001762)
Database Frequency: 309 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microdeletion syndrome (Orphanet:276413)
16p13.11 microdeletion syndrome (Orphanet:261236)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
1q21.1 microdeletion syndrome (Orphanet:250989)
1q21.1 microduplication syndrome (Orphanet:250994)
1q41q42 microdeletion syndrome (Orphanet:250999)
2q32q33 microdeletion syndrome (Orphanet:251019)
3C syndrome (Orphanet:7)
48,XXXY syndrome (Orphanet:96263)
48,XXYY syndrome (Orphanet:10)
49,XXXXY syndrome (Orphanet:96264)
8p11.2 deletion syndrome (Orphanet:251066)
ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
ALDH18A1-related De Barsy syndrome (Orphanet:35664)
ALG3-CDG (Orphanet:79321)
AREDYLD syndrome (Orphanet:1133)
ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
ARTHROGRYPOSIS, DISTAL, TYPE 1B (OMIM:614335)
ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
ARTHROGRYPOSIS, DISTAL, TYPE 2E (OMIM:121070)
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 (OMIM:170995)
Aarskog-Scott syndrome (Orphanet:915)
Aase-Smith syndrome (Orphanet:916)
Ablepharon macrostomia syndrome (Orphanet:920)
Absent tibia - polydactyly - arachnoid cyst (Orphanet:3328)
Acalvaria (Orphanet:945)
Achondrogenesis type 1B (Orphanet:93298)
Acro-renal-ocular syndrome (Orphanet:959)
Acrofacial dysostosis, Rodriguez type (Orphanet:1788)
Acromelic frontonasal dysplasia (Orphanet:1827)
Adams-Oliver syndrome (Orphanet:974)
Adducted thumbs - arthrogryposis, Christian type (Orphanet:2952)
Alpha-mannosidosis (Orphanet:61)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Aminopterin/methotrexate embryofetopathy (Orphanet:1908)
Amniotic bands (Orphanet:1034)
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies (Orphanet:1101)
Antley-Bixler syndrome (Orphanet:83)
Aprosencephaly cerebellar dysgenesis (Orphanet:1126)
Arachnodactyly - abnormal ossification - intellectual deficit (Orphanet:1129)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Arthrogryposis due to muscular dystrophy (Orphanet:1155)
Arthrogryposis multiplex congenita (Orphanet:1037)
Arthrogryposis with oculomotor limitation and electroretinal anomalies (Orphanet:1154)
Arthrogryposis-like syndrome (Orphanet:1149)
Atelosteogenesis type I (Orphanet:1190)
Atelosteogenesis type II (Orphanet:56304)
Atelosteogenesis type III (Orphanet:56305)
Autosomal dominant Charcot-Marie-Tooth disease type 2K (Orphanet:99944)
Autosomal dominant Larsen syndrome (Orphanet:503)
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures (Orphanet:363454)
Autosomal dominant chondrodysplasia punctata (Orphanet:79344)
Autosomal dominant congenital benign spinal muscular atrophy (Orphanet:1216)
Autosomal dominant dopa-responsive dystonia (Orphanet:98808)
Autosomal dominant popliteal pterygium syndrome (Orphanet:1300)
Autosomal recessive centronuclear myopathy (Orphanet:169186)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (Orphanet:217055)
Autosomal recessive limb-girdle muscular dystrophy type 2M (Orphanet:206554)
Autosomal recessive lower motor neuron disease with childhood onset (Orphanet:206580)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive spastic paraplegia type 45 (Orphanet:320396)
Autosomal recessive spastic paraplegia type 55 (Orphanet:320375)
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY (OMIM:210550)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
BRUCK SYNDROME 1 (OMIM:259450)
BRUCK SYNDROME 2 (OMIM:609220)
Bardet-Biedl syndrome 4 (OMIM:615982)
Barth syndrome (Orphanet:111)
Bartsocas-Papas syndrome (Orphanet:1234)
Bifunctional enzyme deficiency (Orphanet:300)
Bilateral renal agenesis (Orphanet:1848)
Blepharophimosis-intellectual deficit syndrome, Verloes type (Orphanet:293725)
Bohring-Opitz syndrome (Orphanet:97297)
Bone dysplasia, lethal Holmgren type (Orphanet:1842)
Bowen-Conradi syndrome (Orphanet:1270)
Brachydactyly type A1 (Orphanet:93388)
Brachydactyly type A4 (Orphanet:93394)
Brachydactyly type C (Orphanet:93384)
Bruck syndrome (Orphanet:2771)
C syndrome (Orphanet:1308)
CAMPOMELIC DYSPLASIA (OMIM:114290)
CARPENTER SYNDROME 2 (OMIM:614976)
CATEL-MANZKE SYNDROME (OMIM:616145)
CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION (OMIM:601389)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
CHARGE syndrome (Orphanet:138)
CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES (OMIM:609441)
CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME (OMIM:612576)
CHROMOSOME 2q31.1 DUPLICATION SYNDROME (OMIM:613681)
CHST3-related skeletal dysplasia (Orphanet:263463)
COFS syndrome (Orphanet:1466)
COG1-CDG (Orphanet:263508)
COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Campomelic dysplasia (Orphanet:140)
Camptodactyly syndrome, Guadalajara type 2 (Orphanet:1326)
Cantrell pentalogy (Orphanet:1335)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Carney complex-trismus-pseudocamptodactyly syndrome (Orphanet:319340)
Carpenter-Waziri syndrome (Orphanet:93973)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Catel-Manzke syndrome (Orphanet:1388)
Caudal regression sequence (Orphanet:3027)
Cerebro-facio-articular syndrome (Orphanet:314679)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Charcot-Marie-Tooth disease type 4B1 (Orphanet:99955)
Charcot-Marie-Tooth disease type 4B2 (Orphanet:99956)
Charcot-Marie-Tooth disease type 4H (Orphanet:99954)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Cloacal exstrophy (Orphanet:93929)
Cold-induced sweating syndrome (Orphanet:157820)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Congenital contractural arachnodactyly (Orphanet:115)
Congenital muscular dystrophy, Ullrich type (Orphanet:75840)
Connective tissue disorder due to lysyl hydroxylase-3 deficiency (Orphanet:300284)
Constriction rings syndrome (Orphanet:295000)
Cooper-Jabs syndrome (Orphanet:1488)
Cornelia de Lange syndrome (Orphanet:199)
Costello syndrome (Orphanet:3071)
Crane-Heise syndrome (Orphanet:1512)
Craniomicromelic syndrome (Orphanet:1524)
Craniosynostosis - fibular aplasia (Orphanet:1533)
Cyprus facial-neuromusculoskeletal syndrome (Orphanet:2674)
DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
De Barsy syndrome (Orphanet:2962)
Desbuquois syndrome (Orphanet:1425)
Desmosterolosis (Orphanet:35107)
Diaphanospondylodysostosis (Orphanet:66637)
Diastrophic dwarfism (Orphanet:628)
Digitotalar dysmorphism (Orphanet:1146)
Dihydropyrimidinuria (Orphanet:38874)
Distal arthrogryposis type 5D (Orphanet:329457)
Distal monosomy 15q (Orphanet:1596)
Distal monosomy 6p (Orphanet:96125)
Duane retraction syndrome (Orphanet:233)
Dubowitz syndrome (Orphanet:235)
Dyssegmental dysplasia, Silverman-Handmaker type (Orphanet:1865)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 (OMIM:615539)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 (OMIM:615349)
ERYTHEMA OF ACRAL REGIONS (OMIM:227000)
Ear-patella-short stature syndrome (Orphanet:2554)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (Orphanet:300179)
Ehlers-Danlos syndrome, kyphoscoliotic type (Orphanet:1900)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Ehlers-Danlos syndrome, vascular type (Orphanet:286)
Ellis Van Creveld syndrome (Orphanet:289)
Exstrophy-epispadias complex (Orphanet:322)
FETAL AKINESIA DEFORMATION SEQUENCE (OMIM:208150)
Familial clubfoot due to 17q23.1q23.2 microduplication (Orphanet:238578)
Familial clubfoot due to PITX1 point mutation (Orphanet:293150)
Familial clubfoot with or without associated lower limb anomalies (Orphanet:199315)
Femoral-facial syndrome (Orphanet:1988)
Fetal Gaucher disease (Orphanet:85212)
Fetal akinesia deformation sequence (Orphanet:994)
Frank-Ter Haar syndrome (Orphanet:137834)
Freeman-Sheldon syndrome (Orphanet:2053)
Friedreich ataxia 1 (OMIM:229300)
Fuhrmann syndrome (Orphanet:2854)
Galloway-Mowat syndrome (Orphanet:2065)
Generalized congenital lipodystrophy with myopathy (Orphanet:228429)
Genitopatellar syndrome (Orphanet:85201)
Geroderma osteodysplastica (Orphanet:2078)
Giant axonal neuropathy (Orphanet:643)
Glycogen storage disease due to acid maltase deficiency, late-onset (Orphanet:420429)
Gordon syndrome (Orphanet:376)
HYDROLETHALUS SYNDROME 1 (OMIM:236680)
HYPERTELORISM AND TETRALOGY OF FALLOT (OMIM:239711)
Hennekam syndrome (Orphanet:2136)
Hereditary sensory and autonomic neuropathy type 6 (Orphanet:314381)
Holmes-Gang syndrome (Orphanet:93970)
Holoprosencephaly (Orphanet:2162)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Hydrolethalus (Orphanet:2189)
Intellectual deficit - hypoplastic corpus callosum - preauricular tag (Orphanet:1495)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intellectual deficit, X-linked, Miles-Carpenter type (Orphanet:85283)
Intellectual deficit, X-linked, Snyder type (Orphanet:3063)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Isolated spina bifida (Orphanet:823)
Jacobsen syndrome (Orphanet:2308)
Juberg-Marsidi syndrome (Orphanet:93972)
Kleefstra syndrome (Orphanet:261494)
Kyphomelic dysplasia (Orphanet:1801)
LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Lambert syndrome (Orphanet:1296)
Langer-Giedion syndrome (Orphanet:502)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Lathosterolosis (Orphanet:46059)
Laurin-Sandrow syndrome (Orphanet:2378)
Lethal Kniest-like dysplasia (Orphanet:2347)
Linear verrucous nevus syndrome (Orphanet:2611)
Loeys-Dietz syndrome type 1 (Orphanet:60030)
MASA syndrome (Orphanet:2466)
MEHMO syndrome (Orphanet:85282)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 (OMIM:614255)
MICROHYDRANENCEPHALY (OMIM:605013)
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Marden-Walker syndrome (Orphanet:2461)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 6 (OMIM:612284)
Meckel syndrome, type 8 (OMIM:613885)
Meckel syndrome, type 9 (OMIM:614209)
Mesomelic dwarfism, Nievergelt type (Orphanet:2633)
Mesomelic dysplasia, Kantaputra type (Orphanet:1836)
Microcephaly - cardiac defect - lung malsegmentation (Orphanet:2516)
Microphthalmia with limb anomalies (Orphanet:1106)
Mietens syndrome (Orphanet:2557)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Moebius syndrome (Orphanet:570)
Monosomy 18q (Orphanet:1600)
Mosaic trisomy 9 (Orphanet:99776)
Mucolipidosis type 2 (Orphanet:576)
Mucopolysaccharidosis type 7 (Orphanet:584)
Multiple epiphyseal dysplasia type 4 (Orphanet:93307)
Multiple epiphyseal dysplasia, Lowry type (Orphanet:166016)
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Nager syndrome (Orphanet:245)
Nail-patella syndrome (Orphanet:2614)
Noonan syndrome (Orphanet:648)
OTOFACIOOSSEOUS-GONADAL SYNDROME (OMIM:601976)
Oculocerebrocutaneous syndrome (Orphanet:1647)
Oculofaciocardiodental syndrome (Orphanet:2712)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Pelvis-shoulder dysplasia (Orphanet:2839)
Pelviscapular dysplasia (Orphanet:93333)
Perrault Syndrome (Orphanet:2855)
Perrault Syndrome 1 (OMIM:233400)
Phocomelia, Schinzel type (Orphanet:2879)
Pontocerebellar hypoplasia type 8 (Orphanet:324569)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Progressive demyelinating neuropathy with bilateral striatal necrosis (Orphanet:217396)
Prune belly syndrome (Orphanet:2970)
Pseudodiastrophic dysplasia (Orphanet:85174)
RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
RIENHOFF SYNDROME (OMIM:615582)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Richards-Rundle syndrome (Orphanet:1399)
Richieri Costa-Pereira syndrome (Orphanet:3102)
Rothmund-Thomson syndrome (Orphanet:2909)
SANTOS SYNDROME (OMIM:613005)
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE (OMIM:181400)
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB (OMIM:615087)
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES (OMIM:602471)
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Scapuloperoneal amyotrophy (Orphanet:85146)
Schinzel-Giedion syndrome (Orphanet:798)
Schwartz-Jampel syndrome (Orphanet:800)
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus (Orphanet:137608)
Severe intellectual deficit and progressive spastic paraplegia (Orphanet:280763)
Sheldon-Hall syndrome (Orphanet:1147)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Short-rib thoracic dysplasia 3 with or without polydactyly (OMIM:613091)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Simpson-Golabi-Behmel syndrome type 2 (Orphanet:79022)
Singleton-Merten dysplasia (Orphanet:85191)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Spastic paraplegia 33, autosomal dominant (OMIM:610244)
Spastic paraplegia 64, autosomal recessive (OMIM:615683)
Spinal muscular atrophy with respiratory distress (Orphanet:98920)
Split hand - urinary anomalies - spina bifida (Orphanet:2437)
Spondyloepimetaphyseal dysplasia congenita, Strudwick type (Orphanet:93346)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepiphyseal dysplasia congenita (Orphanet:94068)
Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet:93317)
Steinert myotonic dystrophy (Orphanet:273)
Stüve-Wiedemann syndrome (Orphanet:3206)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
TARP syndrome (Orphanet:2886)
TMCO1 defect syndrome (Orphanet:228407)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Temtamy syndrome (Orphanet:1777)
Terminal transverse defects of arm (Orphanet:93937)
Thrombocytopenia - absent radius (Orphanet:3320)
Trismus - pseudocamptodactyly (Orphanet:3377)
Trisomy 17p (Orphanet:261290)
Trisomy 20p (Orphanet:261318)
Ulbright-Hodes syndrome (Orphanet:3404)
Ulna hypoplasia - intellectual deficit (Orphanet:2249)
Ulnar/fibula ray defect - brachydactyly (Orphanet:52056)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Van den Ende-Gupta syndrome (Orphanet:2460)
WHISTLING FACE SYNDROME, RECESSIVE FORM (OMIM:277720)
Weaver syndrome (Orphanet:3447)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wrinkly skin syndrome (Orphanet:2834)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
Zellweger syndrome (Orphanet:912)