Abnormality of the face
Symptom Information:
Symptom ID: | HPO:0000271 | ||||||||||||||||||
Synonyms: |
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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) MedDRA: Musculoskeletal and connective tissue disorders(MedDRA:10028395) Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396) Musculoskeletal disorders congenital NEC(MedDRA:10029513) Abnormality of the face(HPO:0000271) |
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Database Frequency: | 108 / 7739 | ||||||||||||||||||
Resource: |
All diseases associated with this symptom:
17q11 microdeletion syndrome | (Orphanet:97685) |
17q11.2 microduplication syndrome | (Orphanet:139474) |
ADULT syndrome | (Orphanet:978) |
AREDYLD syndrome | (Orphanet:1133) |
ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTICFACIES | (OMIM:208081) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
Angelman syndrome | (Orphanet:72) |
Aromatic L-amino acid decarboxylase deficiency | (Orphanet:35708) |
Athyreosis | (Orphanet:95713) |
Autosomal dominant cutis laxa | (Orphanet:90348) |
Autosomal dominant hyper-IgE syndrome | (Orphanet:2314) |
Autosomal recessive cutis laxa type 1 | (Orphanet:90349) |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | (Orphanet:331176) |
BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUSADDUCTUS, AND DEVELOPMENTAL DELAY | (OMIM:112370) |
Barber-Say syndrome | (Orphanet:1231) |
Beckwith-Wiedemann syndrome due to 11p15 microdeletion | (Orphanet:231127) |
Beckwith-Wiedemann syndrome due to CDKN1C mutation | (Orphanet:231120) |
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 | (Orphanet:231117) |
Bifunctional enzyme deficiency | (Orphanet:300) |
Bloom syndrome | (Orphanet:125) |
CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA | (OMIM:211930) |
CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME | (OMIM:212540) |
CLEFT CHIN | (OMIM:119000) |
CYANIDE, INABILITY TO SMELL | (OMIM:304300) |
Central congenital hypothyroidism | (Orphanet:226298) |
Childhood apraxia of speech | (Orphanet:209908) |
Congenital hypothyroidism | (Orphanet:442) |
Congenital hypothyroidism due to developmental anomaly | (Orphanet:95711) |
Congenital ichthyosis - microcephalus - tetraplegia | (Orphanet:2271) |
Craniofacial conodysplasia | (Orphanet:85168) |
Cutis gyrata - acanthosis nigricans - craniosynostosis | (Orphanet:1555) |
DIMPLES, FACIAL | (OMIM:126100) |
DWARFISM, LEVI TYPE | (OMIM:127100) |
Diprosopia | (Orphanet:1681) |
Disorder of sex development - intellectual deficit | (Orphanet:2983) |
EDINBURGH MALFORMATION SYNDROME | (OMIM:129850) |
Ectodermal dysplasia syndrome | (Orphanet:79373) |
Ehlers-Danlos syndrome, vascular type | (Orphanet:286) |
Encephalocraniocutaneous lipomatosis | (Orphanet:2396) |
Epidermolysis bullosa simplex with anodontia/hypodontia | (Orphanet:2325) |
Fallot complex - intellectual deficit - growth delay | (Orphanet:3304) |
Familial partial lipodystrophy associated with PPARG mutations | (Orphanet:79083) |
Familial thyroid dyshormonogenesis | (Orphanet:95716) |
Fetal Gaucher disease | (Orphanet:85212) |
Fibular dimelia - diplopodia | (Orphanet:1757) |
GM1 gangliosidosis type 2 | (Orphanet:79256) |
GM1 gangliosidosis type 3 | (Orphanet:79257) |
Growth delay due to insulin-like growth factor I resistance | (Orphanet:73273) |
Hypertrichosis cubiti - short stature | (Orphanet:2220) |
Hypothyroidism due to TSH receptor mutations | (Orphanet:90673) |
Hypothyroidism due to deficient transcription factors involved in pituitary development or function | (Orphanet:226307) |
Idiopathic congenital hypothyroidism | (Orphanet:95717) |
Infantile Refsum disease | (Orphanet:772) |
Infantile myofibromatosis | (Orphanet:2591) |
Infantile-onset ascending hereditary spastic paralysis | (Orphanet:293168) |
Isolated growth hormone deficiency type IA | (Orphanet:231662) |
Isolated thyroid-stimulating hormone deficiency | (Orphanet:90674) |
Juvenile hyaline fibromatosis | (Orphanet:2028) |
Kaler-Garrity-Stern syndrome | (Orphanet:2324) |
Laurin-Sandrow syndrome | (Orphanet:2378) |
Lipodystrophy due to peptidic growth factors deficiency | (Orphanet:1979) |
Mandibuloacral dysplasia | (Orphanet:2457) |
McCune-Albright syndrome | (Orphanet:562) |
Menkes disease | (Orphanet:565) |
Mucopolysaccharidosis type 1 | (Orphanet:579) |
Mucopolysaccharidosis type 2, severe form | (Orphanet:217085) |
Multiple benign circumferential skin creases on limbs | (Orphanet:2505) |
NASAL ALAR COLLAPSE, BILATERAL | (OMIM:161470) |
NASAL BONES, ABSENCE OF | (OMIM:161480) |
NASAL GROOVE, FAMILIAL TRANSVERSE | (OMIM:161500) |
Nakajo-Nishimura syndrome | (Orphanet:2615) |
Neurofibromatosis - Noonan syndrome | (Orphanet:638) |
Nijmegen breakage syndrome | (Orphanet:647) |
Noonan syndrome with multiple lentigines | (Orphanet:500) |
OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION | (OMIM:165098) |
OROFACIAL CLEFT 3 | (OMIM:600757) |
Occipital horn syndrome | (Orphanet:198) |
Oligodontia | (Orphanet:99798) |
Orofaciodigital syndrome type 1 | (Orphanet:2750) |
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATIONSYNDROME | (OMIM:606721) |
Paroxysmal kinesigenic dyskinesia | (Orphanet:98809) |
Pectus excavatum - macrocephaly - dysplastic nails | (Orphanet:2835) |
Peripheral hypothyroidism | (Orphanet:226310) |
Peripheral resistance to thyroid hormones | (Orphanet:97927) |
Permanent congenital hypothyroidism | (Orphanet:226292) |
Primary congenital hypothyroidism | (Orphanet:226295) |
Primary congenital hypothyroidism without thyroid developmental anomaly | (Orphanet:95714) |
Pycnodysostosis | (Orphanet:763) |
Resistance to thyrotropin-releasing hormone syndrome | (Orphanet:99832) |
Rhombencephalosynapsis | (Orphanet:59315) |
Rombo syndrome | (Orphanet:3110) |
Rothmund-Thomson syndrome | (Orphanet:2909) |
SHORT syndrome | (Orphanet:3163) |
Short chain acyl-CoA dehydrogenase deficiency | (Orphanet:26792) |
Spondylometaphyseal dysplasia, Kozlowski type | (Orphanet:93314) |
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE | (OMIM:601675) |
Testicular regression syndrome | (Orphanet:983) |
Tetrasomy 18p | (Orphanet:3307) |
Thyroid ectopia | (Orphanet:95712) |
Thyroid hemiagenesis | (Orphanet:95719) |
Thyroid hypoplasia | (Orphanet:95720) |
Timothy syndrome | (Orphanet:65283) |
Van Regemorter-Pierquin-Vamos syndrome | (Orphanet:3419) |
WAARDENBURG SYNDROME, TYPE 2B | (OMIM:600193) |
Waardenburg syndrome | (Orphanet:3440) |
Waardenburg syndrome type 3 | (Orphanet:896) |
Wolfram syndrome 2 | (OMIM:604928) |
Wyburn-Mason syndrome | (Orphanet:53719) |