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choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome (BCAHH) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

MONDO:0035651

Also known as:BCAHHKMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndromebranchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome

Overview

Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities.

GeneticsAutosomal dominant · KMT2D (chr 12)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Thin upper lip vermilion, Hypoplastic nipples, and Bilateral choanal atresia; and sometimes findings: Epicanthus, Short stature, Gastroesophageal reflux, and Sparse eyebrow and others.

Organ System	Phenotype Count	Example Features
Ears	5	Progressive sensorineural hearing impairment, Conductive hearing impairment, Mixed hearing impairment

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KMT2D encodes lysine methyltransferase 2D (5,537 aa). Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4). Highest expression in Uterus (30.0 TPM) and Thyroid (29.9 TPM).

Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome is associated with mutations in the KMT2D gene on chromosome 12.

The KMT2D protein participates in Loss of Function of KMT2D in Kabuki Syndrome pathway.

KMT2D is classified as a druggable target (Clinically Actionable and Enzyme categories) with score 13.1.

Diagnosis

Genetic testing for KMT2D is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome.

4 publications have been identified in PubMed for choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome. Kisho has analyzed 3 by research type. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Liu X (2025). [PMID: 40749143](https://pubmed.ncbi.nlm.nih.gov/40749143/). *J Craniofac Surg*. [Case Report / Case Series]
Kokitsu-Nakata NM (2024). [PMID: 38808953](https://pubmed.ncbi.nlm.nih.gov/38808953/). *Am J Med Genet A*. [Case Report / Case Series]
Boniel S (2024). [PMID: 39104744](https://pubmed.ncbi.nlm.nih.gov/39104744/). *Front Genet*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620186

Orphanet

European rare disease database

Orphanet:589856

GARD

Genetic and Rare Diseases Info Center

GARD:22366

Questions for Your Care Team

→Should I pursue genetic testing for KMT2D, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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