Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
12q13.12
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) 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. Additional features may include developmental delay, impaired intellectual development, and growth failure/retardation. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 602113.1.1 | Palestine | Male | Yes | Yes | Choanal atresia; Lacrimal duct aplasia; ... Choanal atresia; Lacrimal duct aplasia; Conductive hearing impairment; Hypoplastic nipples; Thyroid hypoplasia  | NM_003482.3:c.10658G>T | Heterozygous | Autosomal, Dominant | Al-Gazali et al. 2002; Cuvertino et al. 2020 | |
| 602113.1.2 | Palestine | Female | Yes | Yes | Abnormal facial shape; Choanal atresia; ... Abnormal facial shape; Choanal atresia; Hypoplastic nipples; Thyroid agenesis | NM_003482.3:c.10658G>T | Heterozygous | Autosomal, Dominant | Al-Gazali et al. 2002; Cuvertino et al. 2020 | Sibling of 602113.1.... |