Abnormality of the face

Symptom Information:

Symptom ID: HPO:0000271
Synonyms:
Face anomaly [Orphanet:3000]
Congenital anomaly of face (disorder) [Orphanet:3000]
Congenital deformity of face (disorder) [Orphanet:3000]
Congenital anomaly of face [Orphanet:3000]
Face/facial anomalies [Orphanet:3000]
Facial dysmorphism [Orphanet:3000]
Dysmorphism [MedDRA:10066054]
Congenital anomalies of ear, face, and neck [MedDRA:10066054]
Face malformation [MedDRA:10066054]
Face malformation NOS [MedDRA:10066054]
Facial dysmorphism [MedDRA:10066054]
Other specified congenital anomalies of face and neck [MedDRA:10066054]
Other specified congenital anomaly of face and neck [MedDRA:10066054]
Unspecified congenital anomalies of face and neck [MedDRA:10066054]
Flat philtrum [MedDRA:10066054]
Facial dysmorphism (68%) [OMIM:Facial dysmorphism (68%)]
Facial dysmorphism (in some patients) [OMIM:Facial dysmorphism (in some patients)]
Facial dysmorphism (in up to 90%) [OMIM:Facial dysmorphism (in up to 90%)]
Quality:
Cross references:
Orphanet:3000 "Face/facial anomalies" [Orphanet:3000]
OMIM: "Facial dysmorphism (68%)" [OMIM:Facial dysmorphism (68%)]
OMIM: "Facial dysmorphism (in some patients)" [OMIM:Facial dysmorphism (in some patients)]
OMIM: "Facial dysmorphism (in up to 90%)" [OMIM:Facial dysmorphism (in up to 90%)]
UMLS:C0266617 "Congenital anomaly of face" [Orphanet:3000]
Is a (Direct Parents):
HPO         Abnormality of the head
MedDRA Musculoskeletal disorders congenital NEC
HPO         Abnormality of the submandibular region
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)
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)