Rare diseases · Sign or symptom
Microretrognathia
Small retruded chin
HP:0000308
What it means
A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
Rare diseases that can present with this43
Very common80–99%
15- 15q overgrowth syndrome
- 9p13microdeletion syndrome
- Acrofacial dysostosis, Catania type
- Acrofacial dysostosis, Rodríguez type
- CK syndrome
- Cortical blindness-intellectual disability-polydactyly syndrome
- Distal limb deficiencies-micrognathia syndrome
- Intellectual disability, Wolff type
- Isolated rhombencephalosynapsis
- Lethal faciocardiomelic dysplasia
- Monosomy 5p syndrome
- Richieri Costa-Pereira syndrome
- Short stature-craniofacial anomalies-genital hypoplasia syndrome
- Stickler syndrome
- Trisomy 18 syndrome
Common30–79%
14- 10q22.3q23.3microduplication syndrome
- 16p11.2p12.2microdeletion syndrome
- 21q deletion syndrome
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Lissencephaly due to TUBA1A mutation
- Lissencephaly syndrome, Norman-Roberts type
- Mosaic trisomy 17 syndrome
- Musculocontractural Ehlers-Danlos syndrome
- Orofaciodigital syndrome type 14
- Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
- Ring chromosome 3 syndrome
- Short stature, Brussels type
- Trisomy 1q syndrome
Sometimes5–29%
12- 10q22.3q23.3microdeletion syndrome
- 8q24.3microdeletion syndrome
- ALG9-CDG
- Classic multiminicore myopathy
- Macrocephaly-developmental delay syndrome
- Microcephalic cortical malformations-short stature due to RTTN deficiency
- Mosaic trisomy 1 syndrome
- Multiple congenital anomalies-hypotonia-seizures syndrome
and 4 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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Retromicrognathia
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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.