Short neck
Symptom Information:
Symptom ID: | HPO:0000470 | |||||||||
Synonyms: |
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Quality: | ||||||||||
Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of head or neck(HPO:0000152) Abnormality of the neck(HPO:0000464) Short neck(HPO:0000470) 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) MedDRA: |
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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) |