Rare diseases · Sign or symptom
Abnormality of the face
Abnormal face
HP:0000271
What it means
An abnormality of the face.
Rare diseases that can present with this53
Very common80–99%
23- 1q41q42microdeletion syndrome
- Athyreosis
- Barber-Say syndrome
- Congenital ichthyosis-microcephalus-tetraplegia syndrome
- Craniofacial conodysplasia
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- Difference of sex development-intellectual disability syndrome
- Diprosopus
- Juvenile hyaline fibromatosis
- Lipodystrophy due to peptidic growth factors deficiency
- Neurofibromatosis-Noonan syndrome
- Nijmegen breakage syndrome
- Occipital horn syndrome
- Orofaciodigital syndrome type 1
- Paternal uniparental disomy of chromosome 6 syndrome
- Persistent idiopathic facial pain
- Ring chromosome 7 syndrome
- Tetrasomy 18p syndrome
- Thyroid ectopia
- Thyroid hemiagenesis
- Thyroid hypoplasia
- Waardenburg syndrome type 3
- X-linked alpha-thalassemia-intellectual disability syndrome
Common30–79%
17- 17q11microdeletion syndrome
- Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
- Autosomal recessive cutis laxa type 1
- Brooke-Spiegler syndrome
- Cleft lip and alveolus
- Elastosis perforans serpiginosa
- Encephalocraniocutaneous lipomatosis
- Epidermolysis bullosa simplex with anodontia/hypodontia
- Fibular dimelia-diplopodia syndrome
- Infantile myofibromatosis
- Mucopolysaccharidosis type 1
- Noonan syndrome with multiple lentigines
- Ring chromosome 11 syndrome
- Scleromyxedema
- SHORT syndrome
- Supernumerary nostril
- Sweet syndrome
Sometimes5–29%
11- ADULT syndrome
- Autoerythrocyte sensitization syndrome
- Hypertrichosis cubiti
- Infantile Refsum disease
- Isolated absence of upper arm and forearm with hand present
- Isolated rhombencephalosynapsis
- McCune-Albright syndrome
- Multiple benign circumferential skin creases on limbs
and 3 more in this range
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 1 disease 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: Abnormality of the countenance · Abnormality of the physiognomy · Abnormality of the visage · Anomaly of face · Anomaly of the face · Disorder of face · Disorder of the face · Facial abnormality
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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.