OMIM ID:
Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
Patients may have downward-slanting lid fissures, hypertelorism, epicanthal folds, and sparse eyebrows and eyelashes.
Systemic Features
Patients have scaphocephaly with or without craniosynostosis and facial dysmorphism with a depressed nasal bridge and micrognathia. Short stature, sparse hair, and developmental delay are characteristic. Hypoplastic toenails and dental anomalies are present. Brain imaging may show Dandy-Walker malformations and cerebellar vermis hypoplasia. The kidneys may have focal interstitial nephritis and there may be intermittent hematuria and proteinuria in the presence of otherwise normal renal function. Cardiac septal defects have been noted.
Genetics
Inheritance
Homozygous mutations in the DPH1 gene (17p13.3) are responsible for this disorder. Two families have been reported with this condition.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.