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SADDAN
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare inherited disorder of bone growth characterized by skeletal, brain, and skin abnormalities.
Genitourinary Birth Defect
Renal agenesis (bilateral), hypospadias (2nd or 3rd degree)
CBDRP
Centers for Birth Defects Research & Prevention
Central nervous system Birth Defect
Neural tube defects, hydrocephaly, holoprosencephaly, Dandy-Walker malformation
Cardiovascular Birth Defect
Conotruncal heart defects, septal heart defects, obstructive heart defects, atrioventricular septal defects, single ventricle, anomalous pulmonary venous return, heterotaxy, Ebstein malformation.
CBDMP
California Birth Defects Monitoring Program
Pfeiffer syndrome
Many of the characteristic facial features of Pfeiffer syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to bulging and wide-set eyes, an underdeveloped upper jaw, and a beaked nose.
Muenke syndrome
The primary feature of this disease is prematurely fused skull bones along the coronal suture, the growth line which goes over the head from ear to ear. This can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones.
cerebellum
The portion of the brain mainly responsible for balance and coordination.
Spina bifida
Is a condition that often has disabling consequences. With severe spina bifida, a person’s legs and feet are paralyzed, and there are problems with bowel and bladder control. Learning disabilities are common, and mental retardation sometimes occurs
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