Depressed nasal bridge

Symptom Information:

Symptom ID: HPO:0005280
Synonyms:
Depressed nasal root [HPO:0005280]
DEPRESSED NASAL ROOT/BRIDGE [HPO:0005280]
Flat nasal bridge [HPO:0005280]
Flat nasal root [HPO:0005280]
Flat, nasal bridge [HPO:0005280]
Flattened nasal bridge [HPO:0005280]
Low nasal bridge [HPO:0005280]
Depressed nasal bridge [OMIM:Depressed nasal bridge]
Depressed nasal root [OMIM:Depressed nasal root]
Depressed nasal root/bridge [OMIM:Depressed nasal root/bridge]
Flat nasal bridge [OMIM:Flat nasal bridge]
Flat, nasal bridge [OMIM:Flat, nasal bridge]
Flattened nasal bridge [OMIM:Flattened nasal bridge]
Low nasal bridge [OMIM:Low nasal bridge]
Depressed nasal bridge [Orphanet:8360]
Depressed nasal bridge ('saddle nose') [OMIM:Depressed nasal bridge ('saddle nose')]
Depressed nasal bridge (2p21del) [OMIM:Depressed nasal bridge (2p21del)]
Depressed nasal bridge (49%) [OMIM:Depressed nasal bridge (49%)]
Depressed nasal bridge (78%) [OMIM:Depressed nasal bridge (78%)]
Depressed nasal bridge (in childhood) [OMIM:Depressed nasal bridge (in childhood)]
Depressed nasal bridge (in some patients) [OMIM:Depressed nasal bridge (in some patients)]
Depressed nasal root and bridge ('saddle nose') [OMIM:Depressed nasal root and bridge ('saddle nose')]
Flat nasal bridge (33%) [OMIM:Flat nasal bridge (33%)]
Flat nasal bridge (in 2/4 patients) [OMIM:Flat nasal bridge (in 2/4 patients)]
Flat nasal bridge (in some patients) [OMIM:Flat nasal bridge (in some patients)]
Flattened nasal bridge (81%) [OMIM:Flattened nasal bridge (81%)]
Low nasal bridge (in one family) [OMIM:Low nasal bridge (in one family)]
Quality:
Cross references:
Orphanet:8360 "Depressed nasal bridge" [Orphanet:8360]
OMIM: "Depressed nasal bridge" [OMIM:Depressed nasal bridge]
OMIM: "Depressed nasal root" [OMIM:Depressed nasal root]
OMIM: "Depressed nasal root/bridge" [OMIM:Depressed nasal root/bridge]
OMIM: "Flat nasal bridge" [OMIM:Flat nasal bridge]
OMIM: "Flat, nasal bridge" [OMIM:Flat, nasal bridge]
OMIM: "Flattened nasal bridge" [OMIM:Flattened nasal bridge]
OMIM: "Low nasal bridge" [OMIM:Low nasal bridge]
OMIM: "Depressed nasal bridge ('saddle nose')" [OMIM:Depressed nasal bridge ('saddle nose')]
OMIM: "Depressed nasal bridge (2p21del)" [OMIM:Depressed nasal bridge (2p21del)]
OMIM: "Depressed nasal bridge (49%)" [OMIM:Depressed nasal bridge (49%)]
OMIM: "Depressed nasal bridge (78%)" [OMIM:Depressed nasal bridge (78%)]
OMIM: "Depressed nasal bridge (in childhood)" [OMIM:Depressed nasal bridge (in childhood)]
OMIM: "Depressed nasal bridge (in some patients)" [OMIM:Depressed nasal bridge (in some patients)]
OMIM: "Depressed nasal root and bridge ('saddle nose')" [OMIM:Depressed nasal root and bridge ('saddle nose')]
OMIM: "Flat nasal bridge (33%)" [OMIM:Flat nasal bridge (33%)]
OMIM: "Flat nasal bridge (in 2/4 patients)" [OMIM:Flat nasal bridge (in 2/4 patients)]
OMIM: "Flat nasal bridge (in some patients)" [OMIM:Flat nasal bridge (in some patients)]
OMIM: "Flattened nasal bridge (81%)" [OMIM:Flattened nasal bridge (81%)]
OMIM: "Low nasal bridge (in one family)" [OMIM:Low nasal bridge (in one family)]
Is a (Direct Parents):
HPO         Abnormality of the nasal bridge
Orphanet Abnormality of the nose
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:
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)