Frontal bossing
Symptom Information:
Symptom ID: | HPO:0002007 | ||||||||||||
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 skull(HPO:0000929) Abnormality of the calvaria(HPO:0002683) Abnormality of calvarial morphology(HPO:0002648) Abnormal shape of the frontal region(HPO:0011218) Frontal bossing(HPO:0002007) Abnormality of the face(HPO:0000271) Abnormality of the forehead(HPO:0000290) Frontal bossing(HPO:0002007) Abnormality of the skeletal system(HPO:0000924) Abnormality of skeletal morphology(HPO:0011842) Abnormal axial skeleton morphology(HPO:0009121) Abnormality of the skull(HPO:0000929) Abnormality of the calvaria(HPO:0002683) Abnormality of calvarial morphology(HPO:0002648) Abnormal shape of the frontal region(HPO:0011218) Frontal bossing(HPO:0002007) MedDRA: |
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Database Frequency: | 366 / 7739 | ||||||||||||
Resource: |
All diseases associated with this symptom:
10q22.3q23.3 microdeletion syndrome | (Orphanet:276413) |
12q14 microdeletion syndrome | (Orphanet:94063) |
15q13.3 microdeletion syndrome | (Orphanet:199318) |
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
16q24.3 microdeletion syndrome | (Orphanet:261250) |
17p13.3 microduplication syndrome | (Orphanet:217385) |
17q12 microdeletion syndrome | (Orphanet:261265) |
17q23.1q23.2 microdeletion syndrome | (Orphanet:261279) |
1p36 deletion syndrome | (Orphanet:1606) |
1q21.1 microdeletion syndrome | (Orphanet:250989) |
1q21.1 microduplication syndrome | (Orphanet:250994) |
1q41q42 microdeletion syndrome | (Orphanet:250999) |
1q44 microdeletion syndrome | (Orphanet:238769) |
2p21 microdeletion syndrome | (Orphanet:163693) |
2q23.1 microdeletion syndrome | (Orphanet:228402) |
2q32q33 microdeletion syndrome | (Orphanet:251019) |
2q37 microdeletion syndrome | (Orphanet:1001) |
3C syndrome | (Orphanet:7) |
3M syndrome | (Orphanet:2616) |
4q21 microdeletion syndrome | (Orphanet:238750) |
5p13 microduplication syndrome | (Orphanet:329802) |
8q22.1 microdeletion syndrome | (Orphanet:178303) |
AICA-ribosiduria | (Orphanet:250977) |
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS | (OMIM:201750) |
ASYMMETRIC SHORT STATURE SYNDROME | (OMIM:108450) |
Achondrogenesis | (Orphanet:932) |
Achondrogenesis type 1A | (Orphanet:93299) |
Achondrogenesis type 1B | (Orphanet:93298) |
Achondrogenesis type 2 | (Orphanet:93296) |
Achondroplasia | (Orphanet:15) |
Acrocallosal syndrome | (Orphanet:36) |
Acromegaly | (Orphanet:963) |
Acromesomelic dysplasia, Maroteaux type | (Orphanet:40) |
Acute infantile liver failure-multisystemic involvement syndrome | (Orphanet:370088) |
Alagille syndrome | (Orphanet:52) |
Albers-Schönberg osteopetrosis | (Orphanet:53) |
Alexander disease | (Orphanet:58) |
Alpha-mannosidosis | (Orphanet:61) |
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 | (Orphanet:98791) |
Aniridia - renal agenesis - psychomotor retardation | (Orphanet:1064) |
Anophthalmia/microphthalmia - esophageal atresia | (Orphanet:77298) |
Antley-Bixler syndrome | (Orphanet:83) |
Apert syndrome | (Orphanet:87) |
Arachnodactyly - abnormal ossification - intellectual deficit | (Orphanet:1129) |
Atelosteogenesis type I | (Orphanet:1190) |
Atelosteogenesis type III | (Orphanet:56305) |
Atkin-Flaitz syndrome | (Orphanet:1193) |
Atypical hypotonia - cystinuria syndrome | (Orphanet:238523) |
Autosomal dominant Larsen syndrome | (Orphanet:503) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal dominant chondrodysplasia punctata | (Orphanet:79344) |
Autosomal dominant hyper-IgE syndrome | (Orphanet:2314) |
Autosomal dominant hypohidrotic ectodermal dysplasia | (Orphanet:1810) |
Autosomal dominant nonsyndromic intellectual deficit | (Orphanet:178469) |
Autosomal dominant omodysplasia | (Orphanet:93328) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive cutis laxa type 2A | (Orphanet:357058) |
Autosomal recessive cutis laxa type 2B | (Orphanet:357064) |
Autosomal recessive facio-digito-genital syndrome | (Orphanet:1974) |
Autosomal recessive hypohidrotic ectodermal dysplasia | (Orphanet:248) |
Autosomal recessive malignant osteopetrosis | (Orphanet:667) |
Autosomal recessive omodysplasia | (Orphanet:93329) |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | (Orphanet:331176) |
Axenfeld-Rieger syndrome | (Orphanet:782) |
Axial spondylometaphyseal dysplasia | (Orphanet:168549) |
Baller-Gerold syndrome | (Orphanet:1225) |
Bannayan-Riley-Ruvalcaba syndrome | (Orphanet:109) |
Bartter syndrome | (Orphanet:112) |
Bifunctional enzyme deficiency | (Orphanet:300) |
Bone dysplasia, lethal Holmgren type | (Orphanet:1842) |
Brachydactyly - preaxial hallux varus | (Orphanet:1278) |
Brachydactyly type E | (Orphanet:93387) |
Brachymorphism - onychodysplasia - dysphalangism | (Orphanet:1292) |
CARPENTER SYNDROME 2 | (OMIM:614976) |
CHROMOSOME 16q22 DELETION SYNDROME | (OMIM:614541) |
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME | (OMIM:613603) |
CINCA syndrome | (Orphanet:1451) |
CLARK-BARAITSER SYNDROME | (OMIM:300602) |
CLEIDOCRANIAL DYSPLASIA | (OMIM:119600) |
COLE-CARPENTER SYNDROME 2 | (OMIM:616294) |
CORPUS CALLOSUM, AGENESIS OF | (OMIM:217990) |
CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS | (OMIM:608279) |
CYSTINOSIS, NEPHROPATHIC | (OMIM:219800) |
Camurati-Engelmann disease | (Orphanet:1328) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Cartilage-hair hypoplasia | (Orphanet:175) |
Cenani-Lenz syndrome | (Orphanet:3258) |
Cerebro-oculo-nasal syndrome | (Orphanet:66625) |
Childhood-onset hypophosphatasia | (Orphanet:247667) |
Cleidocranial dysplasia | (Orphanet:1452) |
Cloverleaf skull - multiple congenital anomalies | (Orphanet:93267) |
Coffin-Lowry syndrome | (Orphanet:192) |
Cole-Carpenter syndrome | (Orphanet:2050) |
Congenital bile acid synthesis defect type 4 | (Orphanet:79095) |
Congenital contractural arachnodactyly | (Orphanet:115) |
Cooper-Jabs syndrome | (Orphanet:1488) |
Corneal anesthesia - deafness - intellectual deficit | (Orphanet:1051) |
Cortical blindness - intellectual deficit - polydactyly | (Orphanet:1389) |
Craniodiaphyseal dysplasia | (Orphanet:1513) |
Cranioectodermal dysplasia | (Orphanet:1515) |
Cranioectodermal dysplasia 1 | (OMIM:218330) |
Cranioectodermal dysplasia 2 | (OMIM:613610) |
Cranioectodermal dysplasia 3 | (OMIM:614099) |
Cranioectodermal dysplasia 4 | (OMIM:614378) |
Craniofacial dyssynostosis | (Orphanet:1516) |
Craniofaciofrontodigital syndrome | (Orphanet:363705) |
Craniofrontonasal dysplasia | (Orphanet:1520) |
Craniolenticulosutural dysplasia | (Orphanet:50814) |
Craniosynostosis - Dandy-Walker malformation - hydrocephalus | (Orphanet:1538) |
Craniosynostosis - anal anomalies - porokeratosis | (Orphanet:85199) |
Craniosynostosis - dysmorphism - brachydactyly | (Orphanet:1535) |
Craniosynostosis, Boston type | (Orphanet:1541) |
Craniotelencephalic dysplasia | (Orphanet:1528) |
Crouzon disease | (Orphanet:207) |
Crouzon syndrome - acanthosis nigricans | (Orphanet:93262) |
Cutis laxa | (Orphanet:209) |
Cystic fibrosis - gastritis - megaloblastic anemia | (Orphanet:2575) |
Cystinosis | (Orphanet:213) |
D-2-hydroxyglutaric aciduria | (Orphanet:79315) |
Dandy-Walker malformation - postaxial polydactyly | (Orphanet:1566) |
De Barsy syndrome | (Orphanet:2962) |
Deafness - epiphyseal dysplasia - short stature | (Orphanet:3218) |
Deafness - genital anomalies - metacarpal and metatarsal synostosis | (Orphanet:3224) |
Deafness-craniofacial syndrome | (Orphanet:3241) |
Delayed membranous cranial ossification | (Orphanet:3034) |
Desmosterolosis | (Orphanet:35107) |
Diabetic embryopathy | (Orphanet:1926) |
Distal 22q11.2 microduplication syndrome | (Orphanet:261337) |
Distal monosomy 10q | (Orphanet:96148) |
Distal monosomy 6p | (Orphanet:96125) |
Distal trisomy 6p | (Orphanet:1745) |
Dysmorphism - pectus carinatum - joint laxity | (Orphanet:2104) |
Dysosteosclerosis | (Orphanet:1782) |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMALRECESSIVE | (OMIM:224900) |
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMALDOMINANT | (OMIM:612132) |
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 | (OMIM:615539) |
Ear-patella-short stature syndrome | (Orphanet:2554) |
Early-onset parkinsonism - intellectual deficit | (Orphanet:2379) |
Ectodermal dysplasia - intellectual deficit - central nervous system malformation | (Orphanet:1812) |
Ectodermal dysplasia syndrome | (Orphanet:79373) |
Edinburgh malformation syndrome | (Orphanet:1895) |
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria | (Orphanet:1035) |
Encephalopathy due to sulfite oxidase deficiency | (Orphanet:833) |
FIBROCHONDROGENESIS 1 | (OMIM:228520) |
FORSYTHE-WAKELING SYNDROME | (OMIM:613606) |
Familial intestinal malrotation - facial anomalies | (Orphanet:2454) |
Familial lambdoid synostosis | (Orphanet:3267) |
Fanconi anemia | (Orphanet:84) |
Fetal trimethadione syndrome | (Orphanet:1913) |
Fibrochondrogenesis | (Orphanet:2021) |
Fibulo-ulnar hypoplasia - renal anomalies | (Orphanet:2256) |
Filippi syndrome | (Orphanet:3255) |
Fragile X syndrome | (Orphanet:908) |
Frontonasal dysplasia with alopecia and genital anomaly | (Orphanet:228390) |
Fucosidosis | (Orphanet:349) |
Fumaric aciduria | (Orphanet:24) |
GAPO syndrome | (Orphanet:2067) |
GM1 gangliosidosis | (Orphanet:354) |
GRANDDAD SYNDROME | (OMIM:138920) |
Glutaryl-CoA dehydrogenase deficiency | (Orphanet:25) |
Goldblatt syndrome | (Orphanet:166272) |
Gorlin syndrome | (Orphanet:377) |
Grant syndrome | (Orphanet:2097) |
Greig cephalopolysyndactyly syndrome | (Orphanet:380) |
HOLOPROSENCEPHALY 7 | (OMIM:610828) |
HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES | (OMIM:236410) |
HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM | (OMIM:612089) |
Hallermann-Streiff syndrome | (Orphanet:2108) |
Hereditary hypophosphatemic rickets with hypercalciuria | (Orphanet:157215) |
Holoprosencephaly | (Orphanet:2162) |
Hurler syndrome | (Orphanet:93473) |
Hydrocephalus - blue sclerae - nephropathy | (Orphanet:2186) |
Hydrocephaly - tall stature - joint laxity | (Orphanet:2181) |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency | (Orphanet:289290) |
Hypertelorism, Teebi type | (Orphanet:1519) |
Hypocalcemic vitamin D-dependent rickets | (Orphanet:289157) |
Hypocalcemic vitamin D-resistant rickets | (Orphanet:93160) |
Hypochondroplasia | (Orphanet:429) |
Hypohidrotic ectodermal dysplasia | (Orphanet:238468) |
Hypospadias - hypertelorism - coloboma and deafness | (Orphanet:157788) |
Hypotonia - cystinuria syndrome | (Orphanet:163690) |
IMAGe syndrome | (Orphanet:85173) |
INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 | (OMIM:300640) |
Ichthyosis follicularis - alopecia - photophobia | (Orphanet:2273) |
Infantile neuroaxonal dystrophy | (Orphanet:35069) |
Intellectual deficit - athetosis - microphthalmia | (Orphanet:1236) |
Intellectual deficit - hypotonia - skin hyperpigmentation | (Orphanet:3050) |
Intellectual deficit - polydactyly - uncombable hair | (Orphanet:3082) |
Intellectual deficit - short stature - hypertelorism | (Orphanet:3074) |
Intellectual deficit, X-linked - plagiocephaly | (Orphanet:2898) |
Intellectual deficit, X-linked, Wittwer type | (Orphanet:85291) |
Isolated Dandy-Walker malformation | (Orphanet:217) |
Isolated glycerol kinase deficiency | (Orphanet:408) |
Isolated plagiocephaly | (Orphanet:35098) |
Isolated scaphocephaly | (Orphanet:35093) |
Jackson-Weiss syndrome | (Orphanet:1540) |
Jacobsen syndrome | (Orphanet:2308) |
Joubert syndrome 2 | (OMIM:608091) |
KAGAMI-OGATA SYNDROME | (OMIM:608149) |
Kaler-Garrity-Stern syndrome | (Orphanet:2324) |
Keipert syndrome | (Orphanet:2662) |
LUJAN-FRYNS SYNDROME | (OMIM:309520) |
Larsen-like osseous dysplasia - short stature | (Orphanet:2370) |
Larsen-like syndrome, B3GAT3 type | (Orphanet:284139) |
Lenz-Majewski hyperostotic dwarfism | (Orphanet:2658) |
Lethal Larsen-like syndrome | (Orphanet:2371) |
Lethal recessive chondrodysplasia | (Orphanet:1423) |
Linear nevus sebaceus syndrome | (Orphanet:2612) |
MACROCEPHALY, BENIGN FAMILIAL | (OMIM:153470) |
MEIER-GORLIN SYNDROME 1 | (OMIM:224690) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 | (OMIM:615637) |
MENTAL RETARDATION, X-LINKED 93 | (OMIM:300659) |
MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES | (OMIM:607597) |
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA | (OMIM:608624) |
MOMO syndrome | (Orphanet:2563) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 | (OMIM:614114) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 | (OMIM:614643) |
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) |
Megalencephaly | (Orphanet:2477) |
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus | (Orphanet:83473) |
Megalencephaly-capillary malformation-polymicrogyria syndrome | (Orphanet:60040) |
Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
Metaphyseal acroscyphodysplasia | (Orphanet:1240) |
Metaphyseal chondrodysplasia, Jansen type | (Orphanet:33067) |
Metaphyseal chondrodysplasia, Schmid type | (Orphanet:174) |
Microcephalic osteodysplastic dysplasia, Saul-Wilson type | (Orphanet:85172) |
Microgastria - limb reduction defect | (Orphanet:2538) |
Microphthalmia - microtia - fetal akinesia | (Orphanet:2547) |
Microphthalmia with limb anomalies | (Orphanet:1106) |
Miller-Dieker syndrome | (Orphanet:531) |
Monosomy 13q14 | (Orphanet:1587) |
Mosaic trisomy 14 | (Orphanet:1703) |
Mosaic trisomy 8 | (Orphanet:96061) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Mucopolysaccharidosis type 2 | (Orphanet:580) |
Mucopolysaccharidosis type 2, attenuated form | (Orphanet:217093) |
Mucopolysaccharidosis type 2, severe form | (Orphanet:217085) |
Mulibrey nanism | (Orphanet:2576) |
Multiple epiphyseal dysplasia, Al-Gazali type | (Orphanet:166024) |
NOONAN SYNDROME 3 | (OMIM:609942) |
Neonatal adrenoleukodystrophy | (Orphanet:44) |
Neurofaciodigitorenal syndrome | (Orphanet:2673) |
Non-distal trisomy 10q | (Orphanet:1695) |
Non-rhizomelic chondrodysplasia punctata | (Orphanet:176) |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | (Orphanet:363972) |
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE | (OMIM:257850) |
OPITZ-KAVEGGIA SYNDROME | (OMIM:305450) |
OSTEOGENESIS IMPERFECTA, TYPE III | (OMIM:259420) |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 | (OMIM:259700) |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 | (OMIM:615085) |
OTOFACIOOSSEOUS-GONADAL SYNDROME | (OMIM:601976) |
Oculocerebrorenal syndrome | (Orphanet:534) |
Omodysplasia | (Orphanet:2733) |
Opitz G/BBB syndrome | (Orphanet:2745) |
Opsismodysplasia | (Orphanet:2746) |
Orofaciodigital syndrome type 1 | (Orphanet:2750) |
Orofaciodigital syndrome type 3 | (Orphanet:2752) |
Orofaciodigital syndrome type 5 | (Orphanet:2919) |
Osteocraniostenosis | (Orphanet:2763) |
Osteodysplasty, Melnick-Needles type | (Orphanet:2484) |
Osteogenesis imperfecta type 3 | (Orphanet:216812) |
Osteoglophonic dwarfism | (Orphanet:2645) |
Osteopathia striata - cranial sclerosis | (Orphanet:2780) |
Osteoporosis - macrocephaly - blindness - joint hyperlaxity | (Orphanet:2787) |
Otopalatodigital syndrome | (Orphanet:669) |
Otopalatodigital syndrome type 1 | (Orphanet:90650) |
PELGER-HUET ANOMALY | (OMIM:169400) |
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 | (OMIM:613038) |
PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES | (OMIM:602249) |
Parastremmatic dwarfism | (Orphanet:2646) |
Pectus excavatum - macrocephaly - dysplastic nails | (Orphanet:2835) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
Peters-plus syndrome | (Orphanet:709) |
Pierre Robin syndrome - faciodigital anomaly | (Orphanet:2888) |
Pitt-Hopkins-like syndrome 2 | (OMIM:614325) |
Pseudoaminopterin syndrome | (Orphanet:221120) |
Pycnodysostosis | (Orphanet:763) |
Pyruvate dehydrogenase E1-alpha deficiency | (Orphanet:79243) |
Pyruvate dehydrogenase deficiency | (Orphanet:765) |
RENAL AND MULLERIAN DUCT HYPOPLASIA | (OMIM:266810) |
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 | (OMIM:616331) |
RUIJS-AALFS SYNDROME | (OMIM:616200) |
Retinohepatoendocrinologic syndrome | (Orphanet:3087) |
Rhizomelic chondrodysplasia punctata | (Orphanet:177) |
Rhizomelic chondrodysplasia punctata type 1 | (Orphanet:309789) |
Ring chromosome 10 | (Orphanet:1438) |
Ring chromosome 8 | (Orphanet:1450) |
Robinow-like syndrome | (Orphanet:3105) |
Rothmund-Thomson syndrome | (Orphanet:2909) |
Rothmund-Thomson syndrome type 2 | (Orphanet:221016) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
Rudiger syndrome | (Orphanet:3118) |
SCHIZOPHRENIA 1 | (OMIM:181510) |
SCLEROSTEOSIS 2 | (OMIM:614305) |
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES | (OMIM:615789) |
SHORT syndrome | (Orphanet:3163) |
SILVER-RUSSELL SYNDROME | (OMIM:180860) |
SOTOS SYNDROME 1 | (OMIM:117550) |
SPONASTRIME dysplasia | (Orphanet:93357) |
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE | (OMIM:613320) |
Sanfilippo syndrome type D | (Orphanet:79272) |
Sanjad-Sakati syndrome | (Orphanet:2323) |
Schinzel-Giedion syndrome | (Orphanet:798) |
Sclerosteosis | (Orphanet:3152) |
Severe achondroplasia - developmental delay - acanthosis nigricans | (Orphanet:85165) |
Severe combined immunodeficiency due to adenosine deaminase deficiency | (Orphanet:277) |
Short rib-polydactyly syndrome | (Orphanet:1505) |
Short rib-polydactyly syndrome, Verma-Naumoff type | (Orphanet:93271) |
Short stature - craniofacial anomalies - genital hypoplasia | (Orphanet:2994) |
Shprintzen-Goldberg syndrome | (Orphanet:2462) |
Sialidosis type 1 | (Orphanet:812) |
Sialuria | (Orphanet:3166) |
Silver-Russell syndrome | (Orphanet:813) |
Smith-Magenis syndrome | (Orphanet:819) |
Sotos syndrome | (Orphanet:821) |
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification | (Orphanet:93358) |
Spondyloepimetaphyseal dysplasia with multiple dislocations | (Orphanet:93360) |
Stüve-Wiedemann syndrome | (Orphanet:3206) |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | (Orphanet:308386) |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | (Orphanet:308393) |
Symptomatic form of Coffin-Lowry syndrome in female carriers | (Orphanet:276630) |
Syndromic diarrhea | (Orphanet:84064) |
Syndromic multisystem autoimmune disease due to Itch deficiency | (Orphanet:228426) |
TEMPLE SYNDROME | (OMIM:616222) |
THREE M SYNDROME 1 | (OMIM:273750) |
THREE M SYNDROME 2 | (OMIM:612921) |
THREE M SYNDROME 3 | (OMIM:614205) |
Teebi-Shaltout syndrome | (Orphanet:3291) |
Tel Hashomer camptodactyly syndrome | (Orphanet:3292) |
Temtamy syndrome | (Orphanet:1777) |
Tetrasomy 12p | (Orphanet:884) |
Thanatophoric dysplasia | (Orphanet:2655) |
Thanatophoric dysplasia type 1 | (Orphanet:1860) |
Thanatophoric dysplasia type 2 | (Orphanet:93274) |
Thin ribs - tubular bones - dysmorphism | (Orphanet:1506) |
Torg-Winchester syndrome | (Orphanet:3460) |
Treacher-Collins syndrome | (Orphanet:861) |
Tricho-dento-osseous syndrome | (Orphanet:3352) |
Trichomegaly - retina pigmentary degeneration - dwarfism | (Orphanet:3363) |
Trichorhinophalangeal syndrome type 1 and 3 | (Orphanet:77258) |
Triopia | (Orphanet:3374) |
Trisomy 1q | (Orphanet:261344) |
Trisomy 20p | (Orphanet:261318) |
Trisomy 5p | (Orphanet:1742) |
Ulnar/fibula ray defect - brachydactyly | (Orphanet:52056) |
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A | (OMIM:264700) |
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B | (OMIM:600081) |
VITAMIN D-DEPENDENT RICKETS, TYPE 2A | (OMIM:277440) |
W syndrome | (Orphanet:2804) |
White matter hypoplasia - corpus callosum agenesis - intellectual deficit | (Orphanet:3207) |
Wiedemann-Rautenstrauch syndrome | (Orphanet:3455) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
X-linked Opitz G/BBB syndrome | (Orphanet:306597) |
X-linked dominant chondrodysplasia punctata | (Orphanet:35173) |
X-linked dominant chondrodysplasia, Chassaing-Lacombe type | (Orphanet:163966) |
X-linked hypohidrotic ectodermal dysplasia | (Orphanet:181) |
X-linked hypophosphatemia | (Orphanet:89936) |
X-linked intellectual deficit - cerebellar hypoplasia | (Orphanet:137831) |
X-linked intellectual deficit with marfanoid habitus | (Orphanet:776) |
X-linked lissencephaly with abnormal genitalia | (Orphanet:452) |
Zellweger-like syndrome without peroxisomal anomalies | (Orphanet:50812) |
Zunich-Kaye syndrome | (Orphanet:3474) |