These are pleomorphic and include * dolichocephaly (with or without sagittal suture synostosis) * microcephaly * pre- and postnatal growth retardation * brachydactyly * narrow thorax * rhizomelic dwarfism * epicanthal folds * hypodontia and/or microdontia * sparse, slow-growing, hyperpigmented, fine hair * nail dysplasia * hypohydrosis * chronic kidney failure * heart defects * liver fibrosis * visual deficits * photophobia * hypoplasia of the posterior corpus callosum * aberrant calcium homeostasis Electroretinography shows gross abnormalities. Two fetuses of 19 and 23 weeks gestation have also been reported. They showed acromesomelic shortening, craniofacial characteristics with absence of craniosynostosis, small kidneys with tubular and glomerular microscopic cysts, persistent ductal plate with portal fibrosis in the liver, small adrenals, an enlarged cisterna magna and a posterior fossa cyst.
Sensenbrenner syndrome
Van Wyk and Grumbach syndrome
Helsmoortel-Van der Aa syndrome
Nezelof syndrome
Strømme syndrome
Kleeblattschaedel syndrome
Senter syndrome
Löffler's syndrome