FGD1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 20/20 |
| Female | 0% | 0/20 |
| Indifferent | 0% | 0/20 |
| Unknown | 0% | 0/20 |
| General | ||
| Birth Length abnormalities | 25.0% | 5/20 |
| < P3 : Birth length less than 3rd percentile | 25.0% | 5/20 |
| Birth Weight abnormalities | 15.0% | 3/20 |
| < P3 : Small for gestational age | 15.0% | 3/20 |
| Birth Head circumference abnormalities | 0% | 0/20 |
| Current Height abnormalities | 70.0% | 14/20 |
| < P3 : Short stature | 70.0% | 14/20 |
| Current Weight abnormalities | 20.0% | 4/20 |
| < P3 : Decreased body weight | 20.0% | 4/20 |
| Current Head circumference abnormalities | 30.0% | 6/20 |
| < P3 : Microcephaly | 30.0% | 6/20 |
| Neurology | ||
| Behavioral problems | 26.7% | 4/15 |
| Attention deficit hyperactivity disorder | 26.7% | 4/15 |
| Facial abnormalities | ||
| Abnormality of the ear | 70.0% | 14/20 |
| Low-set ears | 55.0% | 11/20 |
| Large earlobe | 35.0% | 7/20 |
| Underfolded helix | 20.0% | 4/20 |
| Posteriorly rotated ears | 15.0% | 3/20 |
| Abnormal helix morphology | 5.0% | 1/20 |
| Microtia | 5.0% | 1/20 |
| Overfolded helix | 5.0% | 1/20 |
| Question mark ear | 5.0% | 1/20 |
| Uplifted earlobe | 5.0% | 1/20 |
| Abnormality of the eye | 95.0% | 19/20 |
| Hypertelorism | 90.0% | 18/20 |
| Ptosis | 40.0% | 8/20 |
| Downslanted palpebral fissures | 20.0% | 4/20 |
| Megalocornea | 10.0% | 2/20 |
| Ectopia pupillae | 5.0% | 1/20 |
| Abnormality of the nose | 100.0% | 20/20 |
| Short nose | 95.0% | 19/20 |
| Anteverted nares | 90.0% | 18/20 |
| Wide nasal bridge | 55.0% | 11/20 |
| Long philtrum | 25.0% | 5/20 |
| Abnormality of the mouth | 90.0% | 18/20 |
| Long philtrum | 55.0% | 11/20 |
| Chin with horizontal crease | 40.0% | 8/20 |
| Dental malocclusion | 40.0% | 8/20 |
| Thin upper lip vermilion | 35.0% | 7/20 |
| High palate | 30.0% | 6/20 |
| Broad philtrum | 20.0% | 4/20 |
| Carious teeth | 5.0% | 1/20 |
| Gingival overgrowth | 5.0% | 1/20 |
| Hypodontia | 5.0% | 1/20 |
| Visual and hearing impairments | ||
| Abnormal hearing | 5.3% | 1/19 |
| Sensorineural hearing impairment | 5.3% | 1/19 |
| Abnormal vision | 33.3% | 6/18 |
| Astigmatism | 33.3% | 6/18 |
| Hypermetropia | 27.8% | 5/18 |
| Strabismus | 11.1% | 2/18 |
| Myopia | 5.6% | 1/18 |
| Heart | ||
| Abnormality of the heart | 36.8% | 7/19 |
| Patent ductus arteriosus | 15.8% | 3/19 |
| Atrial septal defect | 5.3% | 1/19 |
| Left ventricular hypertrophy | 5.3% | 1/19 |
| Patent foramen ovale | 5.3% | 1/19 |
| Pulmonic stenosis | 5.3% | 1/19 |
| Ventricular septal defect | 5.3% | 1/19 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 6.7% | 1/15 |
| Chronic constipation | 6.7% | 1/15 |
| Urogenital | ||
| Abnormality of the urogenital system | 90.0% | 18/20 |
| Shawl scrotum | 75.0% | 15/20 |
| Cryptorchidism | 45.0% | 9/20 |
| Decreased testicular size | 15.0% | 3/20 |
| Bifid scrotum | 10.0% | 2/20 |
| Bilateral cryptorchidism | 10.0% | 2/20 |
| Hypospadias | 10.0% | 2/20 |
| Abnormal penis morphology | 5.0% | 1/20 |
| Abnormal scrotum morphology | 5.0% | 1/20 |
| Azoospermia | 5.0% | 1/20 |
| Fetal pyelectasis | 5.0% | 1/20 |
| Hydrocele testis | 5.0% | 1/20 |
| Inguinal hernia | 5.0% | 1/20 |
| Micropenis | 5.0% | 1/20 |
| Oligozoospermia | 5.0% | 1/20 |
| Penoscrotal transposition | 5.0% | 1/20 |
| Renal hypoplasia | 5.0% | 1/20 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 20/20 |
| Brachydactyly | 85.0% | 17/20 |
| Broad palm | 65.0% | 13/20 |
| Short palm | 65.0% | 13/20 |
| Broad finger | 60.0% | 12/20 |
| Syndactyly | 45.0% | 9/20 |
| Delayed skeletal maturation | 40.0% | 8/20 |
| Joint hypermobility | 40.0% | 8/20 |
| Clinodactyly | 35.0% | 7/20 |
| Reduced arm span | 35.0% | 7/20 |
| Short neck | 35.0% | 7/20 |
| Pectus excavatum | 30.0% | 6/20 |
| Round face | 30.0% | 6/20 |
| Broad foot | 25.0% | 5/20 |
| Bulbous tips of toes | 25.0% | 5/20 |
| Clinodactyly of the 5th finger | 25.0% | 5/20 |
| Pes planus | 25.0% | 5/20 |
| Short toe | 20.0% | 4/20 |
| Short foot | 20.0% | 4/20 |
| Scoliosis | 15.0% | 3/20 |
| Short 5th finger | 15.0% | 3/20 |
| Camptodactyly | 10.0% | 2/20 |
| Cubitus valgus | 10.0% | 2/20 |
| Metatarsus adductus | 10.0% | 2/20 |
| Micrognathia | 10.0% | 2/20 |
| Midface retrusion | 10.0% | 2/20 |
| Single transverse palmar crease | 10.0% | 2/20 |
| Cervical spine hypermobility | 5.0% | 1/20 |
| Delayed closure of the anterior fontanelle | 5.0% | 1/20 |
| Hypoplasia of the odontoid process | 5.0% | 1/20 |
| Osteochondritis dissecans | 5.0% | 1/20 |
| Osteopenia | 5.0% | 1/20 |
| Prominent forehead | 5.0% | 1/20 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 85.0% | 17/20 |
| Prominent umbilicus | 30.0% | 6/20 |
| Widow's peak | 30.0% | 6/20 |
| Frontal bossing | 25.0% | 5/20 |
| Single transverse palmar crease | 25.0% | 5/20 |
| Abnormal number of hair whorls | 5.0% | 1/20 |
| Frontal upsweep of hair | 5.0% | 1/20 |
| Hyperkeratosis | 5.0% | 1/20 |
| Hyperextensible skin | 5.0% | 1/20 |
| Hypopigmented skin patches | 5.0% | 1/20 |
| Numerous nevi | 5.0% | 1/20 |
| Sacral dimple | 5.0% | 1/20 |
| Sparse hair | 5.0% | 1/20 |
| Spotty hyperpigmentation | 5.0% | 1/20 |
| Webbed neck | 5.0% | 1/20 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 5.0% | 1/20 |
| Decreased response to growth hormone stimulation test | 5.0% | 1/20 |
| Abnormality of the immune system | 7.1% | 1/14 |
| Recurrent infections | 7.1% | 1/14 |
| Neoplasia | ||
| Neoplasia | 7.1% | 1/14 |
| Capillary hemangioma | 7.1% | 1/14 |