7 Interesting Facts of DiGeorge syndrome Congenital syndrome characterized by developmental defects in the thymus, parathyroids, and great vessels (fourth branchial arch, third and fourth branchial pouch development) Intellectual disability and dysmorphic facies are features of both Williams and DiGeorge syndromes Distinguishing features of DiGeorge syndrome include hypoparathyroidism, frequent cleft lip/palate, craniofacial defects, hypocalcemia, and …
7 Interesting Facts of Noonan syndrome Noonan syndrome is a congenital syndrome characterized by variable phenotype that may include: Dysmorphic facial features Most prominent in infants and become less dramatic with age; distinctive features may include down-slanting palpebral fissures; ptosis; hypertelorism; and low-set, posteriorly rotated ears Sternal deformity and webbed neck Congenital heart disease (eg, …
4 Interesting Facts of Neurofibromatosis Type 1 Autosomal dominant disorder caused by heterozygous loss of function mutation or deletion in NF1 gene; about 50% of cases are sporadic owing to de novo mutations Disease is characterized by café au lait spots, axillary and/or inguinal freckling, Lisch nodules (hematomas of iris), fibromatous skin tumors, short stature, and …
5 Interesting Facts of Aarskog syndrome Most disease is caused by mutation in the FGD1 gene. Inheritance is X-linked recessive, and wide phenotypic variability is common among people with the syndrome Some manifestations overlap with Noonan syndrome, including similar dysmorphic facial features, short stature, chest deformity, cryptorchidism, delayed puberty, and possible mild cognitive deficiency Other distinct features …
LEOPARD syndrome Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome, an acronym for lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) 4 Interesting Facts of LEOPARD syndrome Syndrome is usually caused by specific PTPN11 mutations and less commonly by BRAF and RAF1 mutations Characteristics of syndrome include lentigines, ocular hypertelorism, cardiac conduction …
5 Interesting Facts of Costello syndrome Caused by de novo heterozygous mutation in the HRAS gene; autosomal dominant inheritance may occur Some phenotypic manifestations include similar coarse facial dysmorphology as noted in patients with Noonan syndrome, short stature, ulnar deviation at wrist, developmental delay, cardiac abnormalities (eg, pulmonic stenosis, hypertrophic cardiomyopathy), and intellectual disability Although significant phenotypic …
5 Interesting Facts of Cardiofaciocutaneous syndrome Most commonly caused by heterozygous mutation involving the BRAF gene Also may be caused by gain-of-function mutations in KRAS, MEK1, or MEK2 genes Some phenotypic manifestations closely resemble Noonan phenotype, such as dysmorphic facial features, cardiac defects (pulmonic stenosis, septal defects, hypertrophic cardiomyopathy), and intellectual disability Some subtle phenotypic differences in manifestations: Blue eyes are …