Familial bird-headed dwarfism (Seckel's syndrome).
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001847:Bone Diseases / Q000235:genetics*; D002508:Cephalometry; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004392:Dwarfism / Q000235:genetics*; D005149:Facial Expression; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009912:Oral Manifestations; D010375:Pedigree