Rare diseases · Sign or symptom
Midface retrusion
Decreased size of midface
HP:0011800
What it means
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Rare diseases that can present with this118
Very common80–99%
47- 1p36deletion syndrome
- 2q37microdeletion syndrome
- 3M syndrome
- Acrodysostosis
- Acrofacial dysostosis, Palagonia type
- Acrofrontofacionasal dysostosis
- Autosomal dominant Robinow syndrome
- Autosomal recessive distal osteolysis syndrome
- Autosomal recessive otospondylomegaepiphyseal dysplasia
- Autosomal recessive Robinow syndrome
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- Camptodactyly syndrome, Guadalajara type 1
- Cataract-intellectual disability-hypogonadism syndrome
- Cerebrofaciothoracic dysplasia
- Cole-Carpenter syndrome
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- Delayed membranous cranial ossification
- Diastrophic dysplasia
- Distal deletion 9p syndrome
- Duplication of the pituitary gland
- Fetal trimethadione syndrome
- FGFR2-related bent bone dysplasia
- Frontofacionasal dysplasia
- GAPO syndrome
- German syndrome
- Gómez-López-Hernández syndrome
- Hypomandibular faciocranial dysostosis
- Jackson-Weiss syndrome
- Keutel syndrome
- Maxillonasal dysplasia
- Microphthalmia with linear skin defects syndrome
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- Myhre syndrome
- Noonan syndrome
- PEHO syndrome
- Pfeiffer syndrome type 1
- Pfeiffer syndrome type 3
- Schinzel-Giedion syndrome
- Smith-Magenis syndrome
- SPONASTRIME dysplasia
- Spondyloepimetaphyseal dysplasia, aggrecan type
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
- Stickler syndrome
- Tetrasomy 5p syndrome
- Treacher-Collins syndrome
- Trisomy 18p syndrome
Common30–79%
33- 17q24.2microdeletion syndrome
- 20q11.2microdeletion syndrome
- 22q11.2duplication syndrome
- 2q23.1microduplication syndrome
- Achondrogenesis type 2
- Apert syndrome
- Arachnodactyly-abnormal ossification-intellectual disability syndrome
- Atelosteogenesis type I
- Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
- Autosomal recessive Stickler syndrome
- Axenfeld-Rieger syndrome
- Beckwith-Wiedemann syndrome
- Cleft lip/palate-ectodermal dysplasia syndrome
- Cleidocranial dysplasia
- Cono-spondylar dysplasia
- Crouzon syndrome
- Dysplastic cortical hyperostosis, Al-Gazali type
- Familial scaphocephaly syndrome, McGillivray type
- Fountain syndrome
- Greenberg dysplasia
- Hypospadias-intellectual disability, Goldblatt type syndrome
- Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- Kleefstra syndrome due to 9q34 microdeletion
- Maternal hyperthermia-induced birth defects
- MEND syndrome
- Mosaic trisomy 2 syndrome
- Pycnodysostosis
- Ring chromosome 22 syndrome
- RNF13-related severe early-onset epileptic encephalopathy
- Short stature-advanced bone age-early-onset osteoarthritis syndrome
- SHORT syndrome
- Thanatophoric dysplasia
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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Decreased projection of midface · Flat midface · Hypoplasia of midface · Hypotrophic midface · Midface deficiency · Midface hypoplasia · Midface, flat · Retrusive midface
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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.