Table 2.

Congenital NAD Deficiency Disorder: Frequency of Select Features

FeatureProportion of Persons w/Feature 1Comment
Congenital heart defects25/25 (100%)Both left- & right-sided heart defects have been described.
Short stature12/13 (92%)
Vertebral anomalies18/26 (69%)
Developmental delay / intellectual disability8/13 (62%)
Renal anomalies16/27 (59%)
Facial dysmorphisms12/26 (46%)
Shortened limbs10/27 (37%)
Limb anomalies7/24 (29%)Hyperphalangism, short finger phalanges, absent toes, right terminal transverse upper limb reduction, radioulnar synostosis
Microcephaly7/24 (29%)Incl 2 persons w/small brain on autopsy
Neuromuscular anomalies6/27 (22%)Talipes, arthrogryposis, pterygia
Sensorineural hearing loss / inner ear abnormalities4/27 (15%)
Other brain findings4/27 (15%)
Syndactyly4/26 (15%)
Nuchal redundancy / cystic hygroma4/26 (15%)Noted either on prenatal imaging or postnatal physical exam
1.

Not every individual was assessed for every feature.

From: Congenital NAD Deficiency Disorder

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