CENPF
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 87.5% | 7/8 |
| Female | 12.5% | 1/8 |
| Indifferent | 0% | 0/8 |
| Unknown | 0% | 0/8 |
| General | ||
| Birth Length abnormalities | 12.5% | 1/8 |
| < P3 : Birth length less than 3rd percentile | 12.5% | 1/8 |
| Birth Weight abnormalities | 25.0% | 2/8 |
| < P3 : Small for gestational age | 25.0% | 2/8 |
| Birth Head circumference abnormalities | 37.5% | 3/8 |
| < P3 : Primary microcephaly | 25.0% | 2/8 |
| > P98 : Macrocephaly at birth | 12.5% | 1/8 |
| Current Height abnormalities | 50.0% | 4/8 |
| < P3 : Short stature | 50.0% | 4/8 |
| Current Weight abnormalities | 37.5% | 3/8 |
| < P3 : Decreased body weight | 37.5% | 3/8 |
| Current Head circumference abnormalities | 75.0% | 6/8 |
| < P3 : Microcephaly | 62.5% | 5/8 |
| > P98 : Macrocephaly | 12.5% | 1/8 |
| Neurology | ||
| Neurological abnormalities | 83.3% | 5/6 |
| Global developmental delay | 50.0% | 3/6 |
| Attention deficit hyperactivity disorder | 16.7% | 1/6 |
| Generalized hypotonia | 16.7% | 1/6 |
| Headache | 16.7% | 1/6 |
| Brain abnormality | 75.0% | 6/8 |
| Microcephaly | 62.5% | 5/8 |
| Abnormal cerebral white matter morphology | 12.5% | 1/8 |
| Alobar holoprosencephaly | 12.5% | 1/8 |
| Lissencephaly | 12.5% | 1/8 |
| Pachygyria | 12.5% | 1/8 |
| Facial abnormalities | ||
| Abnormality of the ear | 75.0% | 3/4 |
| Low-set ears | 25.0% | 1/4 |
| Macrotia | 25.0% | 1/4 |
| Prominent nasal bridge | 25.0% | 1/4 |
| Abnormality of the eye | 100.0% | 6/6 |
| Bilateral microphthalmos | 33.3% | 2/6 |
| Abnormal size of the palpebral fissures | 16.7% | 1/6 |
| Corneal opacity | 16.7% | 1/6 |
| Deeply set eye | 16.7% | 1/6 |
| Hypertelorism | 16.7% | 1/6 |
| Microphthalmia | 16.7% | 1/6 |
| Peters anomaly | 16.7% | 1/6 |
| Abnormality of the nose | 60.0% | 3/5 |
| Anteverted nares | 20.0% | 1/5 |
| Prominent nose | 20.0% | 1/5 |
| Prominent nasal bridge | 20.0% | 1/5 |
| Wide nasal bridge | 20.0% | 1/5 |
| Abnormality of the mouth | 100.0% | 6/6 |
| Long philtrum | 33.3% | 2/6 |
| Wide mouth | 33.3% | 2/6 |
| High palate | 16.7% | 1/6 |
| Microretrognathia | 16.7% | 1/6 |
| Micrognathia | 16.7% | 1/6 |
| Narrow mouth | 16.7% | 1/6 |
| Narrow jaw | 16.7% | 1/6 |
| Solitary median maxillary central incisor | 16.7% | 1/6 |
| Thick vermilion border | 16.7% | 1/6 |
| Thin upper lip vermilion | 16.7% | 1/6 |
| Visual and hearing impairments | ||
| Abnormal hearing | 50.0% | 1/2 |
| Bilateral conductive hearing impairment | 50.0% | 1/2 |
| Abnormal vision | 75.0% | 3/4 |
| Corneal opacity | 50.0% | 2/4 |
| Optic disc hypoplasia | 25.0% | 1/4 |
| Heart | ||
| Abnormality of the heart | 100.0% | 4/4 |
| Bicuspid aortic valve | 50.0% | 2/4 |
| Secundum atrial septal defect | 50.0% | 2/4 |
| Coarctation of aorta | 25.0% | 1/4 |
| Duodenal atresia | 25.0% | 1/4 |
| Patent ductus arteriosus | 25.0% | 1/4 |
| Primum atrial septal defect | 25.0% | 1/4 |
| Ventricular septal defect | 25.0% | 1/4 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 80.0% | 4/5 |
| Intestinal atresia | 40.0% | 2/5 |
| Duodenal atresia | 20.0% | 1/5 |
| Intestinal malrotation | 20.0% | 1/5 |
| Pancreatitis | 20.0% | 1/5 |
| Urogenital | ||
| Abnormality of the urogenital system | 83.3% | 5/6 |
| Cryptorchidism | 50.0% | 3/6 |
| Horseshoe kidney | 16.7% | 1/6 |
| Retractile testis | 16.7% | 1/6 |
| Unilateral renal agenesis | 16.7% | 1/6 |
| Unilateral cryptorchidism | 16.7% | 1/6 |
| Vesicoureteral reflux | 16.7% | 1/6 |
| Skeleton | ||
| Skeletal abnormalities | 60.0% | 3/5 |
| Clinodactyly of the 5th finger | 20.0% | 1/5 |
| Joint hypermobility | 20.0% | 1/5 |
| Preaxial polydactyly | 20.0% | 1/5 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 3/3 |
| Hypopigmentation of hair | 33.3% | 1/3 |
| Low anterior hairline | 33.3% | 1/3 |
| Low posterior hairline | 33.3% | 1/3 |
| Prominent fingertip pads | 33.3% | 1/3 |
| Single transverse palmar crease | 33.3% | 1/3 |
| Small nail | 33.3% | 1/3 |
| Synophrys | 33.3% | 1/3 |
| Thoracic kyphoscoliosis | 33.3% | 1/3 |