Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome- MedGen UID:
- 98032
- •Concept ID:
- C0406709
- •
- Disease or Syndrome
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.
Phosphoribosylaminoimidazole carboxylase deficiency- MedGen UID:
- 713858
- •Concept ID:
- C1291561
- •
- Disease or Syndrome
Phosphoribosylaminoimidazole carboxylase deficiency (PAICSD) is an autosomal recessive disorder characterized by multiple congenital anomalies and early neonatal death (Pelet et al., 2019).
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome- MedGen UID:
- 325265
- •Concept ID:
- C1837822
- •
- Disease or Syndrome
TXNL4A-related craniofacial disorders comprise a range of phenotypes that includes: isolated choanal atresia; choanal atresia with minor anomalies; and Burn-McKeown syndrome (BMKS), which is characterized by typical craniofacial features (bilateral choanal atresia/stenosis, short palpebral fissures, coloboma of the lower eyelids, prominent nasal bridge with widely spaced eyes, short philtrum, thin vermilion of the upper lip, and prominent ears). Hearing loss is common and cardiac defects and short stature have been reported. Intellectual disability is rare.
Bamforth-Lazarus syndrome- MedGen UID:
- 343420
- •Concept ID:
- C1855794
- •
- Disease or Syndrome
Bamforth-Lazarus syndrome (BAMLAZ) is a rare autosomal recessive disorder characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, and spiky hair, with or without choanal atresia or bifid epiglottis (summary by Sarma et al., 2022).
Congenital disorder of glycosylation, type IIw- MedGen UID:
- 1794196
- •Concept ID:
- C5561986
- •
- Disease or Syndrome
Congenital disorder of glycosylation type IIw (CDG2W) is an autosomal dominant metabolic disorder characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins. All reported patients carry the same mutation (602671.0017) (summary by Ng et al., 2021).
For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome- MedGen UID:
- 1824056
- •Concept ID:
- C5774283
- •
- Disease or Syndrome
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 (summary by Cuvertino et al., 2020 and Baldridge et al., 2020).