Variants in the WDR35 gene are usually associated with Sensenbrenner syndrome (#OMIM 613610, cranioectodermal dysplasia, CED2), and short-rib thoracic dysplasia 7 with or without polydactyly (#OMIM 614091, SRTD7). Defects in this gene have been described in patients with Ellis-van Creveld syndrome (EvC) and Asphyxiating thoracic dystrophy (JATD). These syndromes are inherited in an autosomal recessive manner and belong to a group of disorders collectively known as ciliopathies.
CED2 clinical features include:
• Short stature
• Dolichocephaly
• Craniosynostosis
• Frontal bossing
• Full cheeks
• Low set ears
• Simple ears
• Telecanthus
• Epicanthus
• Hypertelorism
• Broad nasal bridge
• Depressed nasal bridge
• Everted lower lip
• Small teeth
• Widely spaced teeth
• Short ribs
• Narrow chest
• Pectus excavatum
• Bilateral inguinal hernias
• Liver abnormalities (hepatomegaly, cholestasis, abnormal echogenicity, abnormal liver function tests)
• Renal insufficiency (renal cysts, increased echogenicity)
• Rhizomelic and mesomelic limb shortening
• Brachydactyly
• Polydactyly
• Syndactyly
• Sparse hair
• Dysplastic nails
• Skin laxity
• Developmental delay (in some patients)
• Prenatal manifestations (polyhydramnios, hydrops fetalis, increased NT)
SRTD7 clinical features include:
• Short stature
• Dolichocephaly
• Scalp edema
• Sparse and absent eyebrows
• Epicanthus
• Cleft palate
• Small teeth
• Missing teeth
• Fused teeth
• Hypoplastic lungs
• Narrow chest
• Shortened ribs
• Ascites
• Hepatic fibrosis
• Pancreatic dysgenesis
• Splenic dysgenesis
• Gastrointestinal malrotation
• Hypospadias, mild (in males)
• Polycystic kidneys
• Limb shortening
• Brachydactyly
• Polydactyly
• Syndactyly
• Skin edema
• Dysplastic nails
• Sparse hair
• Prenatal manifestations (hydrops fetalis)