Main clinical features
|
stocky body build, hypertrichosis, craniosynostosis, conductive hearing loss, normal intelligence, hyperopia, facial dysmorphism, dental anomalies, hypoplastic distal phalanges, umbilical hernia, and genital hypoplasia
brachycephaly (coronal craniosynostosis), low anterior hairline, coarse hair, midface hypoplasia, short palpebral fissures, microphthalmia
variable lipoatrophy and cutis laxa are the basis for a progeroid appearance |
Related entries
| including progeroid syndrome, congenital, Petty type (OMIM: 612289), with different facial dysmorphism: differences include some facial characteristics (shape of the nasal ridge, eye size, and chin size), genital development (PMID: 29100094)
|