Flexion contracture

Symptom Information:

Symptom ID: HPO:0001371
Synonyms:
Contracture [HPO:0001371]
CONTRACTURES [HPO:0001371]
Flexion contractures [HPO:0001371]
Flexion contractures of joints [HPO:0001371]
Joint contracture [HPO:0001371]
Joint contractures [HPO:0001371]
Arthrogryposis [Orphanet:18800]
Arthrogryposis (disorder) [Orphanet:18800]
Contractures [OMIM:Contractures]
Flexion contractures [OMIM:Flexion contractures]
Flexion contractures of joints [OMIM:Flexion contractures of joints]
Joint contracture [OMIM:Joint contracture]
Joint contractures [OMIM:Joint contractures]
Arthrogryposis (6%) [OMIM:Arthrogryposis (6%)]
Arthrogryposis (in some patients) [OMIM:Arthrogryposis (in some patients)]
Arthrogryposis (rare) [OMIM:Arthrogryposis (rare)]
Arthrogryposis (severe form) [OMIM:Arthrogryposis (severe form)]
Contractures (1 patient) [OMIM:Contractures (1 patient)]
Contractures (elbows, wrists, knees, ankles) [OMIM:Contractures (elbows, wrists, knees, ankles)]
Contractures (in 3 of 5 patients) [OMIM:Contractures (in 3 of 5 patients)]
Contractures (in a subset of patients) [OMIM:Contractures (in a subset of patients)]
Contractures (in more severe early-onset cases) [OMIM:Contractures (in more severe early-onset cases)]
Contractures (in some patients) [OMIM:Contractures (in some patients)]
Contractures (in those with early onset) [OMIM:Contractures (in those with early onset)]
Contractures (older children and adolescents) [OMIM:Contractures (older children and adolescents)]
Contractures (variable) [OMIM:Contractures (variable)]
Flexion contracture (elbow) [OMIM:Flexion contracture (elbow)]
Flexion contracture (hip) [OMIM:Flexion contracture (hip)]
Flexion contractures (PIP joints) [OMIM:Flexion contractures (PIP joints)]
Flexion contractures (elbows and knees) [OMIM:Flexion contractures (elbows and knees)]
Flexion contractures (fingers) [OMIM:Flexion contractures (fingers)]
Flexion contractures (hip) [OMIM:Flexion contractures (hip)]
Flexion contractures (hips) [OMIM:Flexion contractures (hips)]
Flexion contractures (knee) [OMIM:Flexion contractures (knee)]
Flexion contractures (knees) [OMIM:Flexion contractures (knees)]
Joint contractures (elbows and knees) [OMIM:Joint contractures (elbows and knees)]
Joint contractures (elbows, fingers, knees) [OMIM:Joint contractures (elbows, fingers, knees)]
Joint contractures (fingers, hips, knees) [OMIM:Joint contractures (fingers, hips, knees)]
Joint contractures (improves with time) [OMIM:Joint contractures (improves with time)]
Joint contractures (in 1 patient) [OMIM:Joint contractures (in 1 patient)]
Joint contractures (in some patients) [OMIM:Joint contractures (in some patients)]
Joint contractures (less common) [OMIM:Joint contractures (less common)]
Joint contractures (small and large joints affected) [OMIM:Joint contractures (small and large joints affected)]
Joint contractures (with age) [OMIM:Joint contractures (with age)]
Muscle spasms [MedDRA:10028334]
Muscle contracture [Orphanet:44200]
Contracture (morphologic abnormality) [Orphanet:44200]
Spasm (finding) [Orphanet:44200]
Muscle contracture (disorder) [Orphanet:44200]
Contracture [Orphanet:44200]
Spasm [Orphanet:44200]
Contractures/cramps/trismus/tetania/claudication/opisthotonos [Orphanet:44200]
Quality:
Cross references:
HPO:0002804 "Arthrogryposis multiplex congenita" [Orphanet:18800]
HPO:0005684 "Distal arthrogryposis" [Orphanet:18800]
Orphanet:18800 "Arthrogryposis" [Orphanet:18800]
Orphanet:44200 "Contractures/cramps/trismus/tetania/claudication/opisthotonos" [Orphanet:44200]
OMIM: "Contractures" [OMIM:Contractures]
OMIM: "Flexion contractures" [OMIM:Flexion contractures]
OMIM: "Flexion contractures of joints" [OMIM:Flexion contractures of joints]
OMIM: "Joint contracture" [OMIM:Joint contracture]
OMIM: "Joint contractures" [OMIM:Joint contractures]
OMIM: "Arthrogryposis (6%)" [OMIM:Arthrogryposis (6%)]
OMIM: "Arthrogryposis (in some patients)" [OMIM:Arthrogryposis (in some patients)]
OMIM: "Arthrogryposis (rare)" [OMIM:Arthrogryposis (rare)]
OMIM: "Arthrogryposis (severe form)" [OMIM:Arthrogryposis (severe form)]
OMIM: "Contractures (1 patient)" [OMIM:Contractures (1 patient)]
OMIM: "Contractures (elbows, wrists, knees, ankles)" [OMIM:Contractures (elbows, wrists, knees, ankles)]
OMIM: "Contractures (in 3 of 5 patients)" [OMIM:Contractures (in 3 of 5 patients)]
OMIM: "Contractures (in a subset of patients)" [OMIM:Contractures (in a subset of patients)]
OMIM: "Contractures (in more severe early-onset cases)" [OMIM:Contractures (in more severe early-onset cases)]
OMIM: "Contractures (in some patients)" [OMIM:Contractures (in some patients)]
OMIM: "Contractures (in those with early onset)" [OMIM:Contractures (in those with early onset)]
OMIM: "Contractures (older children and adolescents)" [OMIM:Contractures (older children and adolescents)]
OMIM: "Contractures (variable)" [OMIM:Contractures (variable)]
OMIM: "Flexion contracture (elbow)" [OMIM:Flexion contracture (elbow)]
OMIM: "Flexion contracture (hip)" [OMIM:Flexion contracture (hip)]
OMIM: "Flexion contractures (PIP joints)" [OMIM:Flexion contractures (PIP joints)]
OMIM: "Flexion contractures (elbows and knees)" [OMIM:Flexion contractures (elbows and knees)]
OMIM: "Flexion contractures (fingers)" [OMIM:Flexion contractures (fingers)]
OMIM: "Flexion contractures (hip)" [OMIM:Flexion contractures (hip)]
OMIM: "Flexion contractures (hips)" [OMIM:Flexion contractures (hips)]
OMIM: "Flexion contractures (knee)" [OMIM:Flexion contractures (knee)]
OMIM: "Flexion contractures (knees)" [OMIM:Flexion contractures (knees)]
OMIM: "Joint contractures (elbows and knees)" [OMIM:Joint contractures (elbows and knees)]
OMIM: "Joint contractures (elbows, fingers, knees)" [OMIM:Joint contractures (elbows, fingers, knees)]
OMIM: "Joint contractures (fingers, hips, knees)" [OMIM:Joint contractures (fingers, hips, knees)]
OMIM: "Joint contractures (improves with time)" [OMIM:Joint contractures (improves with time)]
OMIM: "Joint contractures (in 1 patient)" [OMIM:Joint contractures (in 1 patient)]
OMIM: "Joint contractures (in some patients)" [OMIM:Joint contractures (in some patients)]
OMIM: "Joint contractures (less common)" [OMIM:Joint contractures (less common)]
OMIM: "Joint contractures (small and large joints affected)" [OMIM:Joint contractures (small and large joints affected)]
OMIM: "Joint contractures (with age)" [OMIM:Joint contractures (with age)]
UMLS:C0003886 "Arthrogryposis" [Orphanet:18800]
UMLS:C0009917 "Contracture" [Orphanet:44200]
UMLS:C0037763 "Spasm" [Orphanet:44200]
Is a (Direct Parents):
HPO         Abnormality of muscle morphology
HPO         Abnormality of connective tissue
HPO         Abnormality of joint mobility
Orphanet Aplasia/hypoplasia of the extremities
Orphanet Trismus
HPO         Flexion contracture of digit
Orphanet Muscle anomalies
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the musculature(HPO:0003011)
          Abnormality of muscle morphology(HPO:0011805)
             Flexion contracture(HPO:0001371)
       Abnormality of connective tissue(HPO:0003549)
          Flexion contracture(HPO:0001371)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal joint morphology(HPO:0001367)
                Abnormality of joint mobility(HPO:0011729)
                   Flexion contracture(HPO:0001371)
MedDRA:
Database Frequency: 220 / 7739
Resource:

All diseases associated with this symptom:

1p36 deletion syndrome (Orphanet:1606)
8q22.1 microdeletion syndrome (Orphanet:178303)
ALG1-CDG (Orphanet:79327)
ALG13-CDG (Orphanet:324422)
ALG3-CDG (Orphanet:79321)
ANE syndrome (Orphanet:157954)
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Aarskog-Scott syndrome (Orphanet:915)
Aase-Smith syndrome (Orphanet:916)
Absence of fingerprints - congenital milia (Orphanet:1658)
Acromesomelic dysplasia, Grebe type (Orphanet:2098)
Allan-Herndon-Dudley syndrome (Orphanet:59)
Alopecia - contractures - dwarfism - intellectual deficit (Orphanet:1005)
Amish lethal microcephaly (Orphanet:99742)
Antley-Bixler syndrome (Orphanet:83)
Arterial tortuosity syndrome (Orphanet:3342)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Autism spectrum disorder-epilepsy-arthrogryposis syndrome (Orphanet:370943)
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (Orphanet:99947)
Autosomal dominant Charcot-Marie-Tooth disease type 2E (Orphanet:99939)
Autosomal dominant centronuclear myopathy (Orphanet:169189)
Autosomal dominant limb-girdle muscular dystrophy type 1B (Orphanet:264)
Autosomal dominant limb-girdle muscular dystrophy type 1F (Orphanet:55595)
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (Orphanet:101097)
Autosomal recessive centronuclear myopathy (Orphanet:169186)
Autosomal recessive limb girdle muscular dystrophy type 2A (Orphanet:267)
Autosomal recessive limb-girdle muscular dystrophy type 2C (Orphanet:353)
Autosomal recessive limb-girdle muscular dystrophy type 2D (Orphanet:62)
Autosomal recessive limb-girdle muscular dystrophy type 2G (Orphanet:34514)
Autosomal recessive limb-girdle muscular dystrophy type 2K (Orphanet:86812)
Autosomal recessive limb-girdle muscular dystrophy type 2M (Orphanet:206554)
Autosomal recessive limb-girdle muscular dystrophy type 2Q (Orphanet:254361)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
Autosomal recessive spastic paraplegia type 20 (Orphanet:101000)
Autosomal recessive spastic paraplegia type 45 (Orphanet:320396)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
BRUCK SYNDROME 2 (OMIM:609220)
Bathing suit ichthyosis (Orphanet:100976)
Bethlem myopathy (Orphanet:610)
Blau syndrome (Orphanet:90340)
Bohring-Opitz syndrome (Orphanet:97297)
Buschke-Ollendorff syndrome (Orphanet:1306)
CAMOS syndrome (Orphanet:83472)
CANDLE syndrome (Orphanet:325004)
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURALHEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1 (OMIM:603513)
CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMALRECESSIVE (OMIM:607706)
CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE (OMIM:118230)
CHILD syndrome (Orphanet:139)
CLN1 disease (Orphanet:228329)
COCKAYNE SYNDROME, TYPE III (OMIM:216411)
Cap myopathy (Orphanet:171881)
Central core disease (Orphanet:597)
Cerebro-costo-mandibular syndrome (Orphanet:1393)
Christianson syndrome (Orphanet:85278)
Classic multiminicore myopathy (Orphanet:324604)
Congenital brain dysgenesis due to glutamine synthetase deficiency (Orphanet:71278)
Congenital ichthyosis - intellectual deficit - spastic quadriplegia (Orphanet:352333)
Congenital lethal myopathy, Compton-North type (Orphanet:210163)
Congenital muscular dystrophy due to LMNA mutation (Orphanet:157973)
Congenital muscular dystrophy type 1A (Orphanet:258)
Congenital muscular dystrophy, Ullrich type (Orphanet:75840)
Congenital myopathy with excess of thin filaments (Orphanet:98904)
Connective tissue disorder due to lysyl hydroxylase-3 deficiency (Orphanet:300284)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Czech dysplasia, metatarsal type (Orphanet:137678)
DPAGT1-CDG (Orphanet:86309)
Dermatoosteolysis, Kirghizian type (Orphanet:1657)
Desmin-related myopathy with Mallory body-like inclusions (Orphanet:84132)
Diffuse cutaneous systemic sclerosis (Orphanet:220393)
Duchenne muscular dystrophy (Orphanet:98896)
Epidermolysis bullosa simplex with pyloric atresia (Orphanet:158684)
Fatal infantile hypertonic myofibrillar myopathy (Orphanet:280553)
Fetal Gaucher disease (Orphanet:85212)
Fetal akinesia-cerebral and retinal hemorrhage syndrome (Orphanet:363409)
Fowler syndrome (Orphanet:221126)
Fucosidosis (Orphanet:349)
Galloway-Mowat syndrome (Orphanet:2065)
Gaucher disease (Orphanet:355)
Gaucher disease type 2 (Orphanet:77260)
Generalized congenital lipodystrophy with myopathy (Orphanet:228429)
Glycogen storage disease due to glycogen branching enzyme deficiency (Orphanet:367)
Hereditary sensory and autonomic neuropathy type 6 (Orphanet:314381)
Huntington disease-like 3 (Orphanet:157946)
Hurler syndrome (Orphanet:93473)
Hypotonia-cerebral atrophy-hyperglycinemia syndrome (Orphanet:363424)
Inherited congenital spastic tetraplegia (Orphanet:210141)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures (Orphanet:1568)
Intellectual deficit, X-linked, Brooks type (Orphanet:3056)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Isolated succinate-CoQ reductase deficiency (Orphanet:3208)
JMP syndrome (Orphanet:324999)
Jacobsen syndrome (Orphanet:2308)
Junctional epidermolysis bullosa - pyloric atresia (Orphanet:79403)
KAGAMI-OGATA SYNDROME (OMIM:608149)
KAHRIZI SYNDROME (OMIM:612713)
KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS (OMIM:245160)
LUJAN-FRYNS SYNDROME (OMIM:309520)
Lethal multiple pterygium syndrome (Orphanet:33108)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lethal restrictive dermopathy (Orphanet:1662)
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation (Orphanet:137898)
Limited cutaneous systemic sclerosis (Orphanet:220402)
Lipodystrophy due to peptidic growth factors deficiency (Orphanet:1979)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 (OMIM:614255)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
MPDU1-CDG (Orphanet:79323)
MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE (OMIM:609456)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 (OMIM:615249)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 (OMIM:613154)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 1 (OMIM:613155)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 (OMIM:615351)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 (OMIM:613156)
MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET (OMIM:300718)
MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE (OMIM:300717)
MYOPATHY, TUBULAR AGGREGATE, 2 (OMIM:615883)
Mandibular hypoplasia-deafness-progeroid syndrome (Orphanet:363649)
Mandibuloacral dysplasia (Orphanet:2457)
Mandibuloacral dysplasia with type A lipodystrophy (Orphanet:90153)
Mandibuloacral dysplasia with type B lipodystrophy (Orphanet:90154)
Marfan syndrome type 1 (Orphanet:284963)
Marinesco-Sjögren syndrome (Orphanet:559)
Metatropic dysplasia (Orphanet:2635)
Micrencephaly - corpus callosum agenesis - abnormal genitalia (Orphanet:2508)
Microcephalic primordial dwarfism due to ZNF335 deficiency (Orphanet:329228)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Moderate multiminicore disease with hand involvement (Orphanet:178145)
Moebius syndrome (Orphanet:570)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mucopolysaccharidosis type 7 (Orphanet:584)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet:300496)
Multiple epiphyseal dysplasia, Lowry type (Orphanet:166016)
Mutilating palmoplantar keratoderma with periorificial keratotic plaques (Orphanet:659)
NEMALINE MYOPATHY 1 (OMIM:609284)
NEMALINE MYOPATHY 2 (OMIM:256030)
NEMALINE MYOPATHY 4 (OMIM:609285)
NEMALINE MYOPATHY 8 (OMIM:615348)
NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX (OMIM:162370)
Nakajo-Nishimura syndrome (Orphanet:2615)
Native American myopathy (Orphanet:168572)
Nestor-Guillermo progeria syndrome (Orphanet:280576)
Neu-Laxova syndrome (Orphanet:2671)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Oculofaciocardiodental syndrome (Orphanet:2712)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Otospondylomegaepiphyseal dysplasia (Orphanet:1427)
PMM2-CDG (Orphanet:79318)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Parastremmatic dwarfism (Orphanet:2646)
Partington syndrome (Orphanet:94083)
Pelizaeus-Merzbacher-like due to HSPD1 mutation (Orphanet:280288)
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis (Orphanet:65288)
Pontocerebellar hypoplasia type 8 (Orphanet:324569)
Proteasome disability syndrome (Orphanet:324977)
Pyruvate dehydrogenase lipoic acid synthetase deficiency (OMIM:614462)
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Recessive dystrophic epidermolysis bullosa inversa (Orphanet:79409)
Recombinant 8 syndrome (Orphanet:96167)
Reducing body myopathy (Orphanet:97239)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic chondrodysplasia punctata type 1 (Orphanet:309789)
Rhizomelic chondrodysplasia punctata type 2 (Orphanet:309796)
Rigid spine syndrome (Orphanet:97244)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
Rudiger syndrome (Orphanet:3118)
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
SCHAAF-YANG SYNDROME (OMIM:615547)
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES (OMIM:602471)
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
STEVENSON-CAREY SYNDROME (OMIM:611961)
STIFF SKIN SYNDROME (OMIM:184900)
Sanfilippo syndrome type D (Orphanet:79272)
Say-Barber-Miller syndrome (Orphanet:3132)
Severe generalized recessive dystrophic epidermolysis bullosa (Orphanet:79408)
Sheldon-Hall syndrome (Orphanet:1147)
Short chain acyl-CoA dehydrogenase deficiency (Orphanet:26792)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Spastic paraplegia type 2 (Orphanet:99015)
Spastic paraplegia-optic atrophy-neuropathy syndrome (Orphanet:320406)
Spondylo-megaepiphyseal-metaphyseal dysplasia (Orphanet:228387)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepimetaphyseal dysplasia, Bieganski type (Orphanet:168448)
Spondyloepiphyseal dysplasia, Cantu type (Orphanet:163654)
Stiff skin syndrome (Orphanet:2833)
TEMPLE SYNDROME (OMIM:616222)
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE (OMIM:601675)
Tetrasomy 12p (Orphanet:884)
Tubular aggregate myopathy (Orphanet:2593)
Van den Ende-Gupta syndrome (Orphanet:2460)
WARBURG MICRO SYNDROME 2 (OMIM:614225)
WARBURG MICRO SYNDROME 3 (OMIM:614222)
WARBURG MICRO SYNDROME 4 (OMIM:615663)
WHISTLING FACE SYNDROME, RECESSIVE FORM (OMIM:277720)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Williams syndrome (Orphanet:904)
X-linked centronuclear myopathy (Orphanet:596)
X-linked lethal multiple pterygium syndrome (Orphanet:79447)
X-linked myopathy with postural muscle atrophy (Orphanet:178461)
Xeroderma pigmentosum complementation group F (Orphanet:276264)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)