A 2 yr old boy presents with sho stature, cryptorchidism and congenital hea disease. On examination, the child was also found to have absent nails and polydactyly. Likely diagnosis is:
Syndrome Features Ellis-van Creveld syndrome Also called 'chondroectodermal dysplasia' Chondrodystrophy, polydactyly, ectodermal dysplasia, CHD (Single atrium, VSD). Genitourinary anomalies -hypospadias, epispadias, hypoplastic penis, cryptorchidism, vulvar atresia Rubinstein- Taybi syndrome Microcephaly, ptosis, beaked nose with low-lying philtrum, Broad thumbs and large toes, Intellectual disability , VSD Turner syndrome Only in females; Webbed neck, sho stature, Lymphedema of hand & feet Impaired feility seen Edward syndrome VSD, ASD, PDA, coarctation of aoa, bicuspid aoic or pulmonary valve
Ellis-van Creveld syndrome
Rubinstein- Taybi syndrome
Turner syndrome
Edward syndrome
Impoant Genetic Syndromes