Short neck

Symptom Information:

Symptom ID: HPO:0000470
Synonyms:
Short neck (disorder) [Orphanet:14150]
Short neck [Orphanet:14150]
Short neck [OMIM:Short neck]
Short neck (29%) [OMIM:Short neck (29%)]
Short neck (31%) [OMIM:Short neck (31%)]
Short neck (55%) [OMIM:Short neck (55%)]
Short neck (in some patients) [OMIM:Short neck (in some patients)]
Short neck (less common) [OMIM:Short neck (less common)]
Short neck. [OMIM:Short neck.]
Quality:
Cross references:
Orphanet:14150 "Short neck" [Orphanet:14150]
OMIM: "Short neck" [OMIM:Short neck]
OMIM: "Short neck (29%)" [OMIM:Short neck (29%)]
OMIM: "Short neck (31%)" [OMIM:Short neck (31%)]
OMIM: "Short neck (55%)" [OMIM:Short neck (55%)]
OMIM: "Short neck (in some patients)" [OMIM:Short neck (in some patients)]
OMIM: "Short neck (less common)" [OMIM:Short neck (less common)]
OMIM: "Short neck." [OMIM:Short neck.]
UMLS:C0521525 "Short neck" [Orphanet:14150]
Is a (Direct Parents):
HPO         Abnormality of the cervical spine
HPO         Abnormality of the neck
Orphanet Abnormality of the neck
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 axial skeleton morphology(HPO:0009121)
                Abnormality of the vertebral column(HPO:0000925)
                   Abnormality of the cervical spine(HPO:0003319)
                      Short neck(HPO:0000470)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the neck(HPO:0000464)
             Short neck(HPO:0000470)
MedDRA:
Database Frequency: 345 / 7739
Resource:

All diseases associated with this symptom:

17p13.3 microduplication syndrome (Orphanet:217385)
19p13.12 microdeletion syndrome (Orphanet:254346)
22q11.2 deletion syndrome (Orphanet:567)
2q31.1 microdeletion syndrome (Orphanet:251014)
2q37 microdeletion syndrome (Orphanet:1001)
3C syndrome (Orphanet:7)
3M syndrome (Orphanet:2616)
3q13 microdeletion syndrome (Orphanet:1621)
3q29 microduplication (Orphanet:251038)
48,XXXY syndrome (Orphanet:96263)
49,XXXXY syndrome (Orphanet:96264)
4q21 microdeletion syndrome (Orphanet:238750)
6p22 microdeletion syndrome (Orphanet:251046)
8p23.1 microdeletion syndrome (Orphanet:251071)
8q21.11 microdeletion syndrome (Orphanet:284160)
8q22.1 microdeletion syndrome (Orphanet:178303)
AARSKOG-SCOTT SYNDROME (OMIM:305400)
AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDEDBONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS (OMIM:600908)
ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM,AND TRACHEAL STENOSIS (OMIM:601427)
ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Aarskog-Scott syndrome (Orphanet:915)
Achondrogenesis (Orphanet:932)
Achondrogenesis type 1A (Orphanet:93299)
Achondrogenesis type 1B (Orphanet:93298)
Achondrogenesis type 2 (Orphanet:93296)
Acro-renal-mandibular syndrome (Orphanet:958)
Acrocephalopolydactyly (Orphanet:221054)
Acrocephalosyndactyly (Orphanet:946)
Acrofacial dysostosis, Palagonia type (Orphanet:1787)
Acroosteolysis, dominant type (Orphanet:955)
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia (Orphanet:52055)
Albright hereditary osteodystrophy (Orphanet:665)
Alexander disease (Orphanet:58)
Alpha-mannosidosis (Orphanet:61)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Alström syndrome (Orphanet:64)
Anauxetic dysplasia (Orphanet:93347)
Antenatal multiminicore disease with arthrogryposis multiplex congenita (Orphanet:178148)
Atelosteogenesis type I (Orphanet:1190)
Atelosteogenesis type II (Orphanet:56304)
Atelosteogenesis type III (Orphanet:56305)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant brachyolmia (Orphanet:93304)
Autosomal dominant multiple pterygium syndrome (Orphanet:65743)
Autosomal dominant spondylocostal dysostosis (Orphanet:1797)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive omodysplasia (Orphanet:93329)
Autosomal recessive spastic paraplegia type 49 (Orphanet:320385)
Autosomal recessive spondylocostal dysostosis (Orphanet:2311)
Axial mesodermal dysplasia spectrum (Orphanet:1834)
BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
Baraitser-Winter syndrome (Orphanet:2995)
Bardet-Biedl syndrome (Orphanet:110)
Bardet-Biedl syndrome 17 (OMIM:615994)
Blackfan-Diamond anemia (Orphanet:124)
Bone dysplasia, lethal Holmgren type (Orphanet:1842)
Bowed tibiae - radial anomalies - osteopenia - fractures (Orphanet:3331)
Brachyolmia (Orphanet:1293)
Brachyolmia type 1, Hobaek type (Orphanet:93301)
Brachyolmia type 1, Toledo type (Orphanet:93303)
Braddock syndrome (Orphanet:52047)
Branchio-oculo-facial syndrome (Orphanet:1297)
C syndrome (Orphanet:1308)
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III (OMIM:611929)
CARPENTER SYNDROME 2 (OMIM:614976)
CATEL-MANZKE SYNDROME (OMIM:616145)
CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE (OMIM:118230)
CHROMOSOME 15q25 DELETION SYNDROME (OMIM:614294)
CHROMOSOME 16q22 DELETION SYNDROME (OMIM:614541)
CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED (OMIM:613544)
CHST3-related skeletal dysplasia (Orphanet:263463)
COFS syndrome (Orphanet:1466)
COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTALDELAY (OMIM:616266)
CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
Campomelic dysplasia (Orphanet:140)
Camptodactyly syndrome, Guadalajara type 2 (Orphanet:1326)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carpenter syndrome (Orphanet:65759)
Carpenter-Waziri syndrome (Orphanet:93973)
Cartilage-hair hypoplasia (Orphanet:175)
Catel-Manzke syndrome (Orphanet:1388)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Cleft lip/palate - intestinal malrotation - cardiopathy (Orphanet:2001)
Cleft palate - short stature - vertebral anomalies (Orphanet:2015)
Cloverleaf skull - multiple congenital anomalies (Orphanet:93267)
Cold-induced sweating syndrome (Orphanet:157820)
Combined immunodeficiency with facio-oculo-skeletal anomalies (Orphanet:221139)
Congenital amegakaryocytic thrombocytopenia (Orphanet:3319)
Congenital contractural arachnodactyly (Orphanet:115)
Congenital hypothyroidism due to developmental anomaly (Orphanet:95711)
Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis (Orphanet:352662)
Cornelia de Lange syndrome (Orphanet:199)
Costello syndrome (Orphanet:3071)
Cranioectodermal dysplasia 2 (OMIM:613610)
Craniofacial dyssynostosis (Orphanet:1516)
Craniofaciofrontodigital syndrome (Orphanet:363705)
Craniofrontonasal dysplasia (Orphanet:1520)
Craniosynostosis - fibular aplasia (Orphanet:1533)
Cutis laxa (Orphanet:209)
Cyprus facial-neuromusculoskeletal syndrome (Orphanet:2674)
DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED (OMIM:304950)
Deafness - epiphyseal dysplasia - short stature (Orphanet:3218)
Desbuquois syndrome (Orphanet:1425)
Diaphanospondylodysostosis (Orphanet:66637)
Disorder of sex development - intellectual deficit (Orphanet:2983)
Distal arthrogryposis type 5D (Orphanet:329457)
Distal monosomy 10p (Orphanet:1580)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 3p (Orphanet:1620)
Distal monosomy 6p (Orphanet:96125)
Distal monosomy 7q36 (Orphanet:1636)
Distal monosomy 9p (Orphanet:1642)
Distal trisomy 15q (Orphanet:1707)
Distal trisomy 18q (Orphanet:1716)
Distal trisomy 6p (Orphanet:1745)
Down syndrome (Orphanet:870)
Duane retraction syndrome (Orphanet:233)
Dyggve-Melchior-Clausen disease (Orphanet:239)
Dysmorphism - multiple structural anomalies (Orphanet:1780)
Dysmorphism - short stature - deafness - disorder of sex development (Orphanet:2282)
Dysostosis, Stanescu type (Orphanet:1798)
Dyssegmental dysplasia, Rolland-Desbuquois type (Orphanet:156731)
Embryofetopathy due to oral anticoagulant therapy (Orphanet:1914)
FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
FETAL AKINESIA DEFORMATION SEQUENCE (OMIM:208150)
FIBROCHONDROGENESIS 1 (OMIM:228520)
Fetal akinesia deformation sequence (Orphanet:994)
Fibrochondrogenesis (Orphanet:2021)
Floating-Harbor syndrome (Orphanet:2044)
Freeman-Sheldon syndrome (Orphanet:2053)
Fryns syndrome (Orphanet:2059)
GM1 gangliosidosis (Orphanet:354)
GM1 gangliosidosis type 1 (Orphanet:79255)
German syndrome (Orphanet:2077)
Glycogen storage disease due to aldolase A deficiency (Orphanet:57)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Gordon syndrome (Orphanet:376)
Grubben-de Cock-Borghgraef syndrome (Orphanet:2101)
HAJDU-CHENEY SYNDROME (OMIM:102500)
Hirschsprung disease - nail hypoplasia - dysmorphism (Orphanet:2153)
Holmes-Gang syndrome (Orphanet:93970)
Holoprosencephaly (Orphanet:2162)
Horizontal gaze palsy with progressive scoliosis (Orphanet:2744)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hypertrichotic osteochondrodysplasia, Cantu type (Orphanet:1517)
Hypogonadism - mitral valve prolapse - intellectual deficit (Orphanet:2233)
Iniencephaly (Orphanet:63259)
Intellectual deficit - hypotonia - skin hyperpigmentation (Orphanet:3050)
Intellectual deficit - polydactyly - uncombable hair (Orphanet:3082)
Intellectual deficit, X-linked - psychosis - macroorchidism (Orphanet:3077)
Intellectual deficit, X-linked, Nascimento type (Orphanet:163956)
Intellectual deficit, X-linked, Vitale type (Orphanet:85289)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Isolated Klippel-Feil syndrome (Orphanet:2345)
Isotretinoin-like syndrome (Orphanet:2306)
Jacobsen syndrome (Orphanet:2308)
Juberg-Marsidi syndrome (Orphanet:93972)
KBG syndrome (Orphanet:2332)
KERATOCONUS POSTICUS CIRCUMSCRIPTUS (OMIM:244600)
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS (OMIM:245160)
Kapur-Toriello syndrome (Orphanet:2328)
Kniest dysplasia (Orphanet:485)
Kousseff syndrome (Orphanet:2351)
LEOPARD SYNDROME 1 (OMIM:151100)
LEOPARD SYNDROME 2 (OMIM:611554)
LEOPARD SYNDROME 3 (OMIM:613707)
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Lateral meningocele syndrome (Orphanet:2789)
Legius syndrome (Orphanet:137605)
Lethal Kniest-like dysplasia (Orphanet:2347)
Lethal arthrogryposis - anterior horn cell disease (Orphanet:53696)
Lethal congenital contracture syndrome type 1 (Orphanet:1486)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lethal polymalformative syndrome, Boissel type (Orphanet:210144)
Lethal recessive chondrodysplasia (Orphanet:1423)
Lower limb deficiency - hypospadias (Orphanet:2487)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
MGAT2-CDG (Orphanet:79329)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM (OMIM:616033)
MOMO syndrome (Orphanet:2563)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
MUCOLIPIDOSIS III GAMMA (OMIM:252605)
MURCS association (Orphanet:2578)
MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET (OMIM:300718)
Macrocephaly - spastic paraplegia - dysmorphism (Orphanet:2429)
Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies (Orphanet:2234)
Marden-Walker syndrome (Orphanet:2461)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 1 (OMIM:249000)
Meckel syndrome, type 8 (OMIM:613885)
Megalencephaly (Orphanet:2477)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephaly - cardiac defect - lung malsegmentation (Orphanet:2516)
Microcephaly - cervical spine fusion anomalies (Orphanet:2522)
Microlissencephaly - micromelia (Orphanet:50810)
Micromelic dwarfism, Fryns type (Orphanet:2641)
Moebius syndrome (Orphanet:570)
Monosomy 13q14 (Orphanet:1587)
Monosomy 18p (Orphanet:1598)
Monosomy 18q (Orphanet:1600)
Monosomy 5p (Orphanet:281)
Monosomy 9p (Orphanet:261112)
Monosomy 9q22.3 (Orphanet:77301)
Morse-Rawnsley-Sargent syndrome (Orphanet:2570)
Mosaic trisomy 14 (Orphanet:1703)
Mosaic trisomy 8 (Orphanet:96061)
Mosaic trisomy 9 (Orphanet:99776)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mucopolysaccharidosis type 2, attenuated form (Orphanet:217093)
Mucopolysaccharidosis type 2, severe form (Orphanet:217085)
Mucopolysaccharidosis type 4 (Orphanet:582)
Mucopolysaccharidosis type 6 (Orphanet:583)
Mucopolysaccharidosis type 7 (Orphanet:584)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet:300496)
Multiple epiphyseal dysplasia, Al-Gazali type (Orphanet:166024)
Myhre syndrome (Orphanet:2588)
Myotonia permanens (Orphanet:99735)
NEU-LAXOVA SYNDROME 2 (OMIM:616038)
NOONAN SYNDROME 1 (OMIM:163950)
NOONAN SYNDROME 4 (OMIM:610733)
NOONAN SYNDROME 5 (OMIM:611553)
NOONAN SYNDROME 8 (OMIM:615355)
Neu-Laxova syndrome (Orphanet:2671)
Nijmegen breakage syndrome (Orphanet:647)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Nonacquired combined pituitary hormone deficiency with spine abnormalities (Orphanet:231720)
Noonan syndrome (Orphanet:648)
Noonan syndrome with multiple lentigines (Orphanet:500)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Opsismodysplasia (Orphanet:2746)
Orofaciodigital syndrome type 10 (Orphanet:2756)
Osteoglophonic dwarfism (Orphanet:2645)
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY (OMIM:602342)
Pachygyria - epilepsy - intellectual deficit - dysmorphism (Orphanet:94084)
Parastremmatic dwarfism (Orphanet:2646)
Perinatal lethal hypophosphatasia (Orphanet:247623)
Pfeiffer syndrome (Orphanet:710)
Phocomelia, Schinzel type (Orphanet:2879)
Pilotto syndrome (Orphanet:2894)
Pitt-Hopkins syndrome (Orphanet:2896)
Platyspondylic dysplasia, Torrance type (Orphanet:85166)
Poland syndrome (Orphanet:2911)
Primary basilar impression (Orphanet:2285)
Prominent glabella - microcephaly - hypogenitalism (Orphanet:2083)
Pseudohypoparathyroidism type 1A (Orphanet:79443)
Pseudohypoparathyroidism type 1C (Orphanet:79444)
Pseudopseudohypoparathyroidism (Orphanet:79445)
RFT1-CDG (Orphanet:244310)
RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA (OMIM:610319)
ROBERTS SYNDROME (OMIM:268300)
Radio-renal syndrome (Orphanet:3015)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Rhizomelic syndrome, Urbach type (Orphanet:3098)
Ring chromosome 10 (Orphanet:1438)
Ring chromosome 6 (Orphanet:1448)
Roberts syndrome (Orphanet:3103)
SCARF syndrome (Orphanet:3134)
SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS (OMIM:609654)
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL (OMIM:602613)
SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT (OMIM:184100)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
Sakati-Nyhan syndrome (Orphanet:3128)
Sanfilippo syndrome type D (Orphanet:79272)
Scheie syndrome (Orphanet:93474)
Schimke immuno-osseous dysplasia (Orphanet:1830)
Schinzel-Giedion syndrome (Orphanet:798)
Schneckenbecken dysplasia (Orphanet:3144)
Schwartz-Jampel syndrome (Orphanet:800)
Sheldon-Hall syndrome (Orphanet:1147)
Short rib-polydactyly syndrome, Beemer-Langer type (Orphanet:93268)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Short stature - webbed neck - heart disease (Orphanet:2865)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Simpson-Golabi-Behmel syndrome type 2 (Orphanet:79022)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Spondylo-megaepiphyseal-metaphyseal dysplasia (Orphanet:228387)
Spondylo-ocular syndrome (Orphanet:85194)
Spondylocarpotarsal synostosis (Orphanet:3275)
Spondylocostal dysostosis - anal and genitourinary malformations (Orphanet:94095)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepimetaphyseal dysplasia with multiple dislocations (Orphanet:93360)
Spondyloepimetaphyseal dysplasia, Bieganski type (Orphanet:168448)
Spondyloepimetaphyseal dysplasia, Geneviève type (Orphanet:168454)
Spondyloepimetaphyseal dysplasia, Shohat type (Orphanet:93352)
Spondyloepimetaphyseal dysplasia, aggrecan type (Orphanet:171866)
Spondyloepiphyseal dysplasia congenita (Orphanet:94068)
Spondyloepiphyseal dysplasia tarda (Orphanet:93284)
Spondyloepiphyseal dysplasia, Cantu type (Orphanet:163654)
Spondyloepiphyseal dysplasia, MacDermot type (Orphanet:163668)
Spondylometaphyseal dysplasia, Kozlowski type (Orphanet:93314)
Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet:93317)
Stüve-Wiedemann syndrome (Orphanet:3206)
Subaortic stenosis - short stature (Orphanet:3191)
THREE M SYNDROME 1 (OMIM:273750)
THREE M SYNDROME 2 (OMIM:612921)
THREE M SYNDROME 3 (OMIM:614205)
TMCO1 defect syndrome (Orphanet:228407)
Tetrasomy 12p (Orphanet:884)
Thoracomelic dysplasia (Orphanet:1803)
Triploidy (Orphanet:3376)
Trisomy 12p (Orphanet:1699)
Trisomy 17p (Orphanet:261290)
Trisomy 20p (Orphanet:261318)
Trisomy 4p (Orphanet:1738)
Trisomy 8q (Orphanet:1752)
Trisomy 9p (Orphanet:236)
Ulbright-Hodes syndrome (Orphanet:3404)
Urban-Rogers-Meyer syndrome (Orphanet:3409)
VERHEIJ SYNDROME (OMIM:615583)
WHISTLING FACE SYNDROME, RECESSIVE FORM (OMIM:277720)
Wildervanck syndrome (Orphanet:3456)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
X-linked myopathy with postural muscle atrophy (Orphanet:178461)
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)