Rare diseases · Sign or symptom
Retrognathia
Receding chin
HP:0000278
What it means
An abnormality in which the mandible is mislocalised posteriorly.
Rare diseases that can present with this108
Very common80–99%
31- 15q overgrowth syndrome
- Bamforth-Lazarus syndrome
- Baraitser-Winter cerebrofrontofacial syndrome
- Blepharophimosis-intellectual disability syndrome, SBBYS type
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Desmosterolosis
- Duplication of the pituitary gland
- Ear-patella-short stature syndrome
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- Hidrotic ectodermal dysplasia, Halal type
- Hydrolethalus
- Marden-Walker syndrome
- Marshall-Smith syndrome
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Microcephaly-microcornea syndrome, Seemanova type
- Night blindness-skeletal anomalies-dysmorphism syndrome
- Nijmegen breakage syndrome
- Oculocerebrofacial syndrome, Kaufman type
- Orofaciodigital syndrome type 4
- Osteosclerotic bone dysplasia
- Paternal uniparental disomy of chromosome 6 syndrome
- Perlman syndrome
- Radio-renal syndrome
- Shprintzen-Goldberg syndrome
- Treacher-Collins syndrome
- Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
- Weaver syndrome
- Wiedemann-Rautenstrauch syndrome
- X-linked intellectual disability, Van Esch type
Common30–79%
34- 19q13.11microdeletion syndrome
- 20q11.2microduplication syndrome
- 2p15p16.1microdeletion syndrome
- 7q11.23microduplication syndrome
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- Arthrochalasia Ehlers-Danlos syndrome
- Autosomal dominant Robinow syndrome
- Autosomal recessive centronuclear myopathy
- Bloom syndrome
- Camptodactyly syndrome, Guadalajara type 3
- Distal 17p13.1 microdeletion syndrome
- Distal triplication 15q syndrome
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- Hutchinson-Gilford progeria syndrome
- Hypotonia-cystinuria syndrome
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- Lethal omphalocele-cleft palate syndrome
- Microcephalic osteodysplastic primordial dwarfism type II
- Microphthalmia with linear skin defects syndrome
- MOGS-CDG
- Monosomy 22 syndrome
- Monosomy X syndrome
- Mosaic monosomy X syndrome
- Mosaic trisomy 20 syndrome
- Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
- PMM2-CDG
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
- TMEM70-related mitochondrial encephalo-cardio-myopathy
- Trisomy 8p syndrome
- Turner syndrome
- Turner syndrome due to structural X chromosome anomalies
- X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
- X-linked intellectual disability, Najm type
- X-linked intellectual disability, Seemanova type
Sometimes5–29%
15- 16p12.1p12.3triplication syndrome
- 6q16microdeletion syndrome
- 8p inverted duplication/deletion syndrome
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- ALG11-CDG
- Aneurysm-osteoarthritis syndrome
- Autism spectrum disorder due to AUTS2 deficiency
- Autosomal recessive spastic paraplegia type 77
and 7 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: Lower jaw retrognathia · Lower jaw retrusion · Mandibular retrognathia · Mandibular retrusion · Receding lower jaw · Receding mandible · Retrogenia · Retrognathia of lower jaw
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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.