Rare diseases · Sign or symptom
Abnormal facial shape
Unusual facial appearance
HP:0001999
What it means
An abnormal morphology (form) of the face or its components.
This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised.
Rare diseases that can present with this257
Always100%
3Very common80–99%
77- 15q overgrowth syndrome
- 19p13.13microdeletion syndrome
- 19p13.3microduplication syndrome
- 22q11.2deletion syndrome
- 49,XXXYY syndrome
- 49,XYYYY syndrome
- 6q16microdeletion syndrome
- 6q terminal deletion syndrome
- 7p22.1microduplication syndrome
- 8p inverted duplication/deletion syndrome
- 8q21.11microdeletion syndrome
- Adenylosuccinate lyase deficiency
- ALG8-CDG
- Aspartylglucosaminuria
- Autism spectrum disorder due to AUTS2 deficiency
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
- Beta-mannosidosis
- Brachydactyly-short stature-retinitis pigmentosa syndrome
- Cerebellar-facial-dental syndrome
- Cerebrofacioarticular syndrome
- Cockayne syndrome type 1
- Cockayne syndrome type 2
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- Crouzon syndrome
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
- Distal deletion 10q syndrome
- Distal triplication 15q syndrome
- DYRK1A-related intellectual disability syndrome
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- Ectodermal dysplasia-blindness syndrome
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- Focal facial dermal dysplasia type I
- Frontometaphyseal dysplasia
- Fucosidosis
- Gabriele-de Vries syndrome
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- GM1 gangliosidosis type 1
- Growth delay due to insulin-like growth factor type 1 deficiency
- Hajdu-Cheney syndrome
- Hao-Fountain syndrome due to 16p13.2 microdeletion
- Hennekam syndrome
- Holoprosencephaly
- Infantile multisystem neurologic-endocrine-pancreatic disease
- Intellectual disability-balding-patella luxation-acromicria syndrome
- Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
- Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
- Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
- Intellectual disability syndrome due to a DYRK1A point mutation
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Kleefstra syndrome due to a point mutation
- Lamb-Shaffer syndrome
- Laron syndrome
- Lissencephaly syndrome, Norman-Roberts type
- MAN1B1-CDG
- MGAT2-CDG
- Microcephalic cortical malformations-short stature due to RTTN deficiency
- Microtriplication 11q24.1 syndrome
- Monosomy 13q34 syndrome
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
- Multicentric osteolysis-nodulosis-arthropathy spectrum
- Overgrowth-macrocephaly-facial dysmorphism syndrome
- PMP22-RAI1 contiguous gene duplication syndrome
- Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
- Prolidase deficiency
- Pyruvate dehydrogenase deficiency
- Recombinant 8 syndrome
- Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
- Ring chromosome 13 syndrome
- Ring chromosome 21 syndrome
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Sagliker syndrome
- SATB2-associated syndrome due to a pathogenic variant
- Say-Barber-Miller syndrome
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 2 diseases where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Abnormal morphology of the face · Deformity of face · Distinctive facies · Distortion of face · Dysmorphic facial features · Dysmorphic facies · Facial dysmorphism · Funny looking face
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.