Skeletal dysplasia

Gene: HHAT

Additional case reported with a severe microcephaly, skeletal dysplasia and sex reversal phenotype.

PMID: 33749989 - Pande et al 2021 - report multiple malformations in three pregnancies with a novel biallelic in-frame deletion, c.365_367del; (p.Thr122del), in exon 5 of HHAT in the living proband. She shows severe microphthalmia, microcephaly (−8 SD head circumference at age 7), skeletal dysplasia (narrow bell-shaped thorax, short and angel-shaped epiphyses of hands and feet) and midface retrusion, short columella with a groove at the base, prominent ears, long philtrum, depressed nasal bridge, everted lower lip, and a singlec entral incisor. She also has complete sex reversal (karyotype of 46, XY, normal internal organs including uterus and ovaries.)

Created: 17 Dec 2021, 7:30 p.m. | Last Modified: 17 Dec 2021, 7:30 p.m.

Panel Version: 0.10286

Green List (high evidence)

Additional family reported, with severe microcephaly, skeletal dysplasia and sex reversal phenotype.

Created: 19 Dec 2021, 6:45 a.m. | Last Modified: 19 Dec 2021, 6:45 a.m.

Panel Version: 0.140

Two unrelated families reported. Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia.
Sources: Expert list

Created: 6 Dec 2020, 5:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nivelon-Nivelon-Mabille syndrome 600092

Publications

• 24784881
• 30912300
• 33749989