Depressed nasal bridge
Symptom Information:
Symptom ID: | HPO:0005280 | |||||||||||||||||||||||||||
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 head(HPO:0000234) Abnormality of the face(HPO:0000271) Abnormality of the nose(HPO:0000366) Abnormality of the nasal bridge(HPO:0000422) Depressed nasal bridge(HPO:0005280) MedDRA: |
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Database Frequency: | 381 / 7739 | |||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
10q22.3q23.3 microdeletion syndrome | (Orphanet:276413) |
14q11.2 microdeletion syndrome | (Orphanet:261120) |
14q12 microdeletion syndrome | (Orphanet:261144) |
17q12 microdeletion syndrome | (Orphanet:261265) |
17q23.1q23.2 microdeletion syndrome | (Orphanet:261279) |
1p36 deletion syndrome | (Orphanet:1606) |
1q41q42 microdeletion syndrome | (Orphanet:250999) |
2p21 microdeletion syndrome | (Orphanet:163693) |
2q37 microdeletion syndrome | (Orphanet:1001) |
3C syndrome | (Orphanet:7) |
3M syndrome | (Orphanet:2616) |
49,XXXXY syndrome | (Orphanet:96264) |
4q21 microdeletion syndrome | (Orphanet:238750) |
5q14.3 microdeletion syndrome | (Orphanet:228384) |
8p11.2 deletion syndrome | (Orphanet:251066) |
8q22.1 microdeletion syndrome | (Orphanet:178303) |
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE | (OMIM:101800) |
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE | (OMIM:614613) |
ADAMS-OLIVER SYNDROME 2 | (OMIM:614219) |
ALG3-CDG | (Orphanet:79321) |
AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM | (OMIM:104350) |
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS | (OMIM:201750) |
Ablepharon macrostomia syndrome | (Orphanet:920) |
Absent thumb - short stature - immunodeficiency | (Orphanet:2951) |
Achondrogenesis | (Orphanet:932) |
Achondrogenesis type 1A | (Orphanet:93299) |
Achondroplasia | (Orphanet:15) |
Acrodysostosis | (Orphanet:950) |
Acrodysostosis with multiple hormone resistance | (Orphanet:280651) |
Acromesomelic dysplasia, Maroteaux type | (Orphanet:40) |
Alagille syndrome due to 20p12 microdeletion | (Orphanet:261600) |
Alagille syndrome due to a JAG1 point mutation | (Orphanet:261619) |
Albright hereditary osteodystrophy | (Orphanet:665) |
Alpha-N-acetylgalactosaminidase deficiency type 2 | (Orphanet:79280) |
Alpha-mannosidosis | (Orphanet:61) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 | (Orphanet:98791) |
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis | (Orphanet:86818) |
Aniridia - renal agenesis - psychomotor retardation | (Orphanet:1064) |
Antley-Bixler syndrome | (Orphanet:83) |
Apert syndrome | (Orphanet:87) |
Arthrogryposis - renal dysfunction - cholestasis | (Orphanet:2697) |
Aspartylglucosaminuria | (Orphanet:93) |
Atelosteogenesis type I | (Orphanet:1190) |
Atelosteogenesis type II | (Orphanet:56304) |
Atelosteogenesis type III | (Orphanet:56305) |
Atypical hypotonia - cystinuria syndrome | (Orphanet:238523) |
Autosomal dominant Larsen syndrome | (Orphanet:503) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal dominant omodysplasia | (Orphanet:93328) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive hypohidrotic ectodermal dysplasia | (Orphanet:248) |
Autosomal recessive omodysplasia | (Orphanet:93329) |
Autosomal recessive spondylocostal dysostosis | (Orphanet:2311) |
Axenfeld-Rieger syndrome | (Orphanet:782) |
BARATELA-SCOTT SYNDROME | (OMIM:300881) |
BRACHYMESOMELIA-RENAL SYNDROME | (OMIM:113470) |
Beckwith-Wiedemann syndrome due to 11p15 microduplication | (Orphanet:96076) |
Beta-thalassemia major | (Orphanet:231214) |
Bifunctional enzyme deficiency | (Orphanet:300) |
Blepharophimosis - epicanthus inversus - ptosis | (Orphanet:126) |
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency | (Orphanet:329255) |
Blepharophimosis-intellectual deficit syndrome, MKB type | (Orphanet:293707) |
Blepharophimosis-intellectual deficit syndrome, Ohdo type | (Orphanet:2728) |
Brachytelephalangic chondrodysplasia punctata | (Orphanet:79345) |
Brachytelephalangy - dysmorphism - Kallmann syndrome | (Orphanet:1295) |
Brain malformation - congenital heart disease - postaxial polydactyly | (Orphanet:75389) |
Branchio-oculo-facial syndrome | (Orphanet:1297) |
C syndrome | (Orphanet:1308) |
CAMPOMELIC DYSPLASIA | (OMIM:114290) |
CARDIOFACIOCUTANEOUS SYNDROME 1 | (OMIM:115150) |
CARPENTER SYNDROME 1 | (OMIM:201000) |
CARPENTER SYNDROME 2 | (OMIM:614976) |
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION | (OMIM:601088) |
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURALHEARING LOSS, AND SKELETAL DYSPLASIA | (OMIM:616007) |
CEDNIK syndrome | (Orphanet:66631) |
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE | (OMIM:302950) |
CHROMOSOME 16q22 DELETION SYNDROME | (OMIM:614541) |
CLEIDOCRANIAL DYSPLASIA | (OMIM:119600) |
CODAS syndrome | (Orphanet:1458) |
COFFIN-SIRIS SYNDROME | (OMIM:135900) |
COLD-INDUCED SWEATING SYNDROME 1 | (OMIM:272430) |
CORNELIA DE LANGE SYNDROME 1 | (OMIM:122470) |
CORNELIA DE LANGE SYNDROME 5 | (OMIM:300882) |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | (OMIM:614437) |
Campomelic dysplasia | (Orphanet:140) |
Camptodactyly syndrome, Guadalajara type 1 | (Orphanet:1327) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Carpenter syndrome | (Orphanet:65759) |
Carpenter-Waziri syndrome | (Orphanet:93973) |
Cartilage-hair hypoplasia | (Orphanet:175) |
Cataract - hypertrichosis - intellectual deficit | (Orphanet:1375) |
Cataract - intellectual deficit - hypogonadism | (Orphanet:1387) |
Char syndrome | (Orphanet:46627) |
Chondrodysplasia, Blomstrand type | (Orphanet:50945) |
Chudley-Lowry-Hoar syndrome | (Orphanet:93971) |
Cleidocranial dysplasia | (Orphanet:1452) |
Coffin-Lowry syndrome | (Orphanet:192) |
Coffin-Siris syndrome | (Orphanet:1465) |
Cold-induced sweating syndrome | (Orphanet:157820) |
Combined immunodeficiency with facio-oculo-skeletal anomalies | (Orphanet:221139) |
Congenital brain dysgenesis due to glutamine synthetase deficiency | (Orphanet:71278) |
Congenital pulmonary lymphangiectasia | (Orphanet:2414) |
Corneal anesthesia - deafness - intellectual deficit | (Orphanet:1051) |
Cornelia de Lange syndrome | (Orphanet:199) |
Costello syndrome | (Orphanet:3071) |
Crane-Heise syndrome | (Orphanet:1512) |
Craniodiaphyseal dysplasia | (Orphanet:1513) |
Craniofacial-deafness-hand syndrome | (Orphanet:1529) |
Craniofaciofrontodigital syndrome | (Orphanet:363705) |
Craniometaphyseal dysplasia | (Orphanet:1522) |
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis | (Orphanet:171839) |
Crossed polysyndactyly | (Orphanet:2935) |
Cutis gyrata - acanthosis nigricans - craniosynostosis | (Orphanet:1555) |
DESBUQUOIS DYSPLASIA 1 | (OMIM:251450) |
DESBUQUOIS DYSPLASIA 2 | (OMIM:615777) |
DPM1-CDG | (Orphanet:79322) |
Dandy-Walker malformation - postaxial polydactyly | (Orphanet:1566) |
Delayed membranous cranial ossification | (Orphanet:3034) |
Dermato-cardio-skeletal syndrome, Borrone type | (Orphanet:1266) |
Desbuquois syndrome | (Orphanet:1425) |
Desmosterolosis | (Orphanet:35107) |
Diaphanospondylodysostosis | (Orphanet:66637) |
Diastrophic dwarfism | (Orphanet:628) |
Distal monosomy 1q | (Orphanet:36367) |
Distal monosomy 3p | (Orphanet:1620) |
Distal monosomy 6p | (Orphanet:96125) |
Donnai-Barrow syndrome | (Orphanet:2143) |
Down syndrome | (Orphanet:870) |
Dubowitz syndrome | (Orphanet:235) |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMALRECESSIVE | (OMIM:224900) |
ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET | (OMIM:129540) |
ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY | (OMIM:614520) |
Ectodermal dysplasia - intellectual deficit - central nervous system malformation | (Orphanet:1812) |
Ehlers-Danlos syndrome, arthrochalasic type | (Orphanet:1899) |
Ehlers-Danlos syndrome, dermatosparaxis type | (Orphanet:1901) |
Ehlers-Danlos syndrome, kyphoscoliotic type | (Orphanet:1900) |
Embryofetopathy due to oral anticoagulant therapy | (Orphanet:1914) |
Emery-Nelson syndrome | (Orphanet:1927) |
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria | (Orphanet:1035) |
Epiphyseal dysplasia - hearing loss - dysmorphism | (Orphanet:1825) |
FACIOCARDIOMELIC SYNDROME | (OMIM:612731) |
FANCONI ANEMIA, COMPLEMENTATION GROUP L | (OMIM:614083) |
FIBROCHONDROGENESIS 1 | (OMIM:228520) |
FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE | (OMIM:227260) |
Familial intestinal malrotation - facial anomalies | (Orphanet:2454) |
Feingold syndrome | (Orphanet:1305) |
Fetal Gaucher disease | (Orphanet:85212) |
Fetal akinesia deformation sequence | (Orphanet:994) |
Fetal minoxidil syndrome | (Orphanet:1918) |
Fetal trimethadione syndrome | (Orphanet:1913) |
Fibrochondrogenesis | (Orphanet:2021) |
Fibulo-ulnar hypoplasia - renal anomalies | (Orphanet:2256) |
Fine-Lubinsky syndrome | (Orphanet:1272) |
Focal facial dermal dysplasia | (Orphanet:79133) |
Fraser syndrome | (Orphanet:2052) |
Fronto-facio-nasal dysostosis | (Orphanet:1791) |
Frontonasal dysplasia with alopecia and genital anomaly | (Orphanet:228390) |
Fumaric aciduria | (Orphanet:24) |
GAPO syndrome | (Orphanet:2067) |
GMS syndrome | (Orphanet:2090) |
Gastrocutaneous syndrome | (Orphanet:2069) |
German syndrome | (Orphanet:2077) |
Gingival fibromatosis - facial dysmorphism | (Orphanet:2025) |
Glaucoma - ectopia - microspherophakia - stiff joints - short stature | (Orphanet:2084) |
Glycogen storage disease due to glycogen debranching enzyme deficiency | (Orphanet:366) |
Goldblatt syndrome | (Orphanet:166272) |
Grant syndrome | (Orphanet:2097) |
Greenberg dysplasia | (Orphanet:1426) |
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 | (OMIM:616006) |
HOLOPROSENCEPHALY 4 | (OMIM:142946) |
HOLOPROSENCEPHALY 5 | (OMIM:609637) |
HOLOPROSENCEPHALY 9 | (OMIM:610829) |
HYPERTELORISM AND TETRALOGY OF FALLOT | (OMIM:239711) |
HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED | (OMIM:241800) |
Hall-Riggs syndrome | (Orphanet:2107) |
Hartsfield-Bixler-Demyer syndrome | (Orphanet:2117) |
Heart defect - round face - congenital developmental delay | (Orphanet:1355) |
Hennekam syndrome | (Orphanet:2136) |
Holmes-Gang syndrome | (Orphanet:93970) |
Hurler syndrome | (Orphanet:93473) |
Hurler-Scheie syndrome | (Orphanet:93476) |
Hyaluronidase deficiency | (Orphanet:67041) |
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly | (Orphanet:2180) |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency | (Orphanet:289290) |
Hypertelorism, Teebi type | (Orphanet:1519) |
Hypertrichotic osteochondrodysplasia, Cantu type | (Orphanet:1517) |
Hypohidrotic ectodermal dysplasia | (Orphanet:238468) |
Hypotonia - cystinuria syndrome | (Orphanet:163690) |
ICF syndrome | (Orphanet:2268) |
IMAGe syndrome | (Orphanet:85173) |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1 | (OMIM:242860) |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2 | (OMIM:614069) |
Intellectual deficit, X-linked, Armfield type | (Orphanet:85276) |
Intellectual deficit, X-linked, Brooks type | (Orphanet:3056) |
Intellectual deficit, X-linked, Nascimento type | (Orphanet:163956) |
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome | (Orphanet:369837) |
Isolated thyroid-stimulating hormone deficiency | (Orphanet:90674) |
Isotretinoin syndrome | (Orphanet:2305) |
Jacobsen syndrome | (Orphanet:2308) |
Joubert syndrome 2 | (OMIM:608091) |
Juberg-Marsidi syndrome | (Orphanet:93972) |
Jung-Wolff-Back-Stahl syndrome | (Orphanet:2321) |
KAGAMI-OGATA SYNDROME | (OMIM:608149) |
Keipert syndrome | (Orphanet:2662) |
Keutel syndrome | (Orphanet:85202) |
Kniest dysplasia | (Orphanet:485) |
Knobloch syndrome | (Orphanet:1571) |
Kyphomelic dysplasia | (Orphanet:1801) |
LEOPARD SYNDROME 2 | (OMIM:611554) |
LEOPARD SYNDROME 3 | (OMIM:613707) |
LUBS X-LINKED MENTAL RETARDATION SYNDROME | (OMIM:300260) |
Larsen-like syndrome, B3GAT3 type | (Orphanet:284139) |
Leprechaunism | (Orphanet:508) |
Lethal Kniest-like dysplasia | (Orphanet:2347) |
Lethal osteosclerotic bone dysplasia | (Orphanet:1832) |
Lethal recessive chondrodysplasia | (Orphanet:1423) |
Leukoencephalopathy - metaphyseal chondrodysplasia | (Orphanet:83629) |
Lymphedema - atrial septal defects - facial changes | (Orphanet:86915) |
Léri-Weill dyschondrosteosis | (Orphanet:240) |
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY | (OMIM:606369) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 | (OMIM:615761) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 | (OMIM:615866) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 | (OMIM:614340) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 | (OMIM:615942) |
MENTAL RETARDATION, X-LINKED 9 | (OMIM:309549) |
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA | (OMIM:608624) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 | (OMIM:615824) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 | (OMIM:257300) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 | (OMIM:614114) |
MOVED TO 614732 | (OMIM:300290) |
MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,AND PSYCHOMOTOR DELAY | (OMIM:601347) |
Macrocephaly-autism syndrome | (Orphanet:210548) |
Marshall syndrome | (Orphanet:560) |
Marshall-Smith syndrome | (Orphanet:561) |
Maxillo-nasal dysplasia | (Orphanet:1248) |
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus | (Orphanet:83473) |
Megalencephaly-capillary malformation-polymicrogyria syndrome | (Orphanet:60040) |
Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
Metatropic dysplasia | (Orphanet:2635) |
Microcephaly - lymphedema - chorioretinopathy | (Orphanet:2526) |
Microcephaly - seizures - intellectual deficit - heart disease | (Orphanet:2519) |
Microphthalmia with limb anomalies | (Orphanet:1106) |
Moebius syndrome | (Orphanet:570) |
Monosomy 18q | (Orphanet:1600) |
Monosomy 9p | (Orphanet:261112) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Mucolipidosis type 2 | (Orphanet:576) |
Mucopolysaccharidosis type 1 | (Orphanet:579) |
Mucopolysaccharidosis type 2 | (Orphanet:580) |
Mucopolysaccharidosis type 2, severe form | (Orphanet:217085) |
Mucopolysaccharidosis type 6 | (Orphanet:583) |
Mulibrey nanism | (Orphanet:2576) |
Multiple acyl-CoA dehydrogenase deficiency | (Orphanet:26791) |
Multiple congenital anomalies - hypotonia - seizures syndrome | (Orphanet:280633) |
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 | (Orphanet:300496) |
Multiple sulfatase deficiency | (Orphanet:585) |
NOONAN SYNDROME 4 | (OMIM:610733) |
Nasopalpebral lipoma - coloboma - telecanthus | (Orphanet:2399) |
Neuralgic amyotrophy | (Orphanet:2901) |
Nijmegen breakage syndrome | (Orphanet:647) |
Non-distal trisomy 10q | (Orphanet:1695) |
Non-rhizomelic chondrodysplasia punctata | (Orphanet:176) |
Noonan syndrome with multiple lentigines | (Orphanet:500) |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | (Orphanet:363972) |
OSTEOGENESIS IMPERFECTA, TYPE XII | (OMIM:613849) |
OTOFACIOOSSEOUS-GONADAL SYNDROME | (OMIM:601976) |
Oculocerebral hypopigmentation syndrome, Cross type | (Orphanet:2719) |
Okamoto syndrome | (Orphanet:2729) |
Omodysplasia | (Orphanet:2733) |
Opitz G/BBB syndrome | (Orphanet:2745) |
Opsismodysplasia | (Orphanet:2746) |
Orofaciodigital syndrome type 10 | (Orphanet:2756) |
Orofaciodigital syndrome type 2 | (Orphanet:2751) |
Osteocraniostenosis | (Orphanet:2763) |
Osteoglophonic dwarfism | (Orphanet:2645) |
Osteoporosis - pseudoglioma | (Orphanet:2788) |
Otofaciocervical syndrome | (Orphanet:2792) |
Otopalatodigital syndrome | (Orphanet:669) |
Otopalatodigital syndrome type 2 | (Orphanet:90652) |
PARIETAL FORAMINA 2 | (OMIM:609597) |
PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS | (OMIM:600399) |
PELGER-HUET ANOMALY | (OMIM:169400) |
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) | (OMIM:614883) |
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) | (OMIM:614862) |
PHAVER syndrome | (Orphanet:2876) |
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 | (OMIM:613038) |
PMM2-CDG | (Orphanet:79318) |
PREMATURE AGING SYNDROME, OKAMOTO TYPE | (OMIM:601811) |
Pai syndrome | (Orphanet:1993) |
Pallister-Hall syndrome | (Orphanet:672) |
Pectus excavatum - macrocephaly - dysplastic nails | (Orphanet:2835) |
Pelvic dysplasia - arthrogryposis of lower limbs | (Orphanet:2840) |
Perlman syndrome | (Orphanet:2849) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
Peters-plus syndrome | (Orphanet:709) |
Pfeiffer syndrome | (Orphanet:710) |
Pfeiffer syndrome type 1 | (Orphanet:93258) |
Pfeiffer syndrome type 2 | (Orphanet:93259) |
Pfeiffer syndrome type 3 | (Orphanet:93260) |
Pitt-Hopkins-like syndrome 2 | (OMIM:614325) |
Platyspondylic dysplasia, Torrance type | (Orphanet:85166) |
Pontocerebellar hypoplasia type 3 | (Orphanet:97249) |
Pontocerebellar hypoplasia type 7 | (Orphanet:284339) |
Prolidase deficiency | (Orphanet:742) |
Proteus syndrome | (Orphanet:744) |
Pseudohypoparathyroidism type 1A | (Orphanet:79443) |
Pseudohypoparathyroidism type 1C | (Orphanet:79444) |
Pseudopseudohypoparathyroidism | (Orphanet:79445) |
RAPP-HODGKIN SYNDROME | (OMIM:129400) |
Radial ray hypoplasia - choanal atresia | (Orphanet:3026) |
Radio-renal syndrome | (Orphanet:3015) |
Recombinant 8 syndrome | (Orphanet:96167) |
Renier-Gabreels-Jasper syndrome | (Orphanet:93975) |
Rhizomelic chondrodysplasia punctata | (Orphanet:177) |
Rhizomelic chondrodysplasia punctata type 1 | (Orphanet:309789) |
Rhizomelic chondrodysplasia punctata type 2 | (Orphanet:309796) |
Rhizomelic syndrome, Urbach type | (Orphanet:3098) |
Rudiger syndrome | (Orphanet:3118) |
SHORT RIB-POLYDACTYLY SYNDROME, TYPE III | (OMIM:263510) |
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES | (OMIM:615789) |
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL | (OMIM:602613) |
SPONASTRIME dysplasia | (Orphanet:93357) |
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE | (OMIM:613320) |
SRD5A3-CDG | (Orphanet:324737) |
STICKLER SYNDROME, TYPE I | (OMIM:108300) |
Sanfilippo syndrome type D | (Orphanet:79272) |
Sanjad-Sakati syndrome | (Orphanet:2323) |
Scalp-ear-nipple syndrome | (Orphanet:2036) |
Scheie syndrome | (Orphanet:93474) |
Schimke immuno-osseous dysplasia | (Orphanet:1830) |
Schinzel-Giedion syndrome | (Orphanet:798) |
Sclerosteosis | (Orphanet:3152) |
Short rib-polydactyly syndrome | (Orphanet:1505) |
Short rib-polydactyly syndrome, Verma-Naumoff type | (Orphanet:93271) |
Short-rib thoracic dysplasia 8 with or without polydactyly | (OMIM:615503) |
Simpson-Golabi-Behmel syndrome | (Orphanet:373) |
Smith-Fineman-Myers syndrome | (Orphanet:93974) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Smith-Magenis syndrome | (Orphanet:819) |
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification | (Orphanet:93358) |
Spondyloepimetaphyseal dysplasia with multiple dislocations | (Orphanet:93360) |
Spondyloepimetaphyseal dysplasia, Bieganski type | (Orphanet:168448) |
Spondyloepimetaphyseal dysplasia, Shohat type | (Orphanet:93352) |
Spondyloepiphyseal dysplasia, Cantu type | (Orphanet:163654) |
Spondylometaphyseal dysplasia, Golden type | (Orphanet:168544) |
Spondylometaphyseal dysplasia, Kozlowski type | (Orphanet:93314) |
Spondylometaphyseal dysplasia, Sedaghatian type | (Orphanet:93317) |
Stickler syndrome | (Orphanet:828) |
Stickler syndrome type 2 | (Orphanet:90654) |
Summitt syndrome | (Orphanet:3210) |
TEMPLE SYNDROME | (OMIM:616222) |
TEMPLE-BARAITSER SYNDROME | (OMIM:611816) |
THREE M SYNDROME 1 | (OMIM:273750) |
Tetrasomy 12p | (Orphanet:884) |
Thanatophoric dysplasia | (Orphanet:2655) |
Thanatophoric dysplasia type 1 | (Orphanet:1860) |
Thanatophoric dysplasia type 2 | (Orphanet:93274) |
Timothy syndrome | (Orphanet:65283) |
Toriello-Carey syndrome | (Orphanet:3338) |
Toriello-Lacassie-Droste syndrome | (Orphanet:3339) |
Transaldolase deficiency | (Orphanet:101028) |
Trisomy 1q | (Orphanet:261344) |
Trisomy 4p | (Orphanet:1738) |
Ulbright-Hodes syndrome | (Orphanet:3404) |
VAN BOGAERT-HOZAY SYNDROME | (OMIM:277150) |
Van den Ende-Gupta syndrome | (Orphanet:2460) |
W syndrome | (Orphanet:2804) |
WEILL-MARCHESANI SYNDROME 1 | (OMIM:277600) |
Weaver syndrome | (Orphanet:3447) |
Weill-Marchesani syndrome | (Orphanet:3449) |
Weissenbacher- Zweymuller syndrome | (Orphanet:3450) |
Williams syndrome | (Orphanet:904) |
Wolcott-Rallison syndrome | (Orphanet:1667) |
X-linked hypohidrotic ectodermal dysplasia | (Orphanet:181) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
XIA-GIBBS SYNDROME | (OMIM:615829) |
Zellweger syndrome | (Orphanet:912) |
Zunich-Kaye syndrome | (Orphanet:3474) |
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME | (OMIM:601321) |