PRR12
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 52.9% | 18/34 |
| Female | 47.1% | 16/34 |
| Indifferent | 0% | 0/34 |
| Unknown | 0% | 0/34 |
| General | ||
| Birth Length abnormalities | 11.8% | 4/34 |
| < P3 : Birth length less than 3rd percentile | 11.8% | 4/34 |
| Birth Weight abnormalities | 14.7% | 5/34 |
| < P3 : Small for gestational age | 14.7% | 5/34 |
| Birth Head circumference abnormalities | 5.9% | 2/34 |
| < P3 : Primary microcephaly | 5.9% | 2/34 |
| Current Height abnormalities | 26.5% | 9/34 |
| < P3 : Short stature | 23.5% | 8/34 |
| > P98 : Tall stature | 2.9% | 1/34 |
| Current Weight abnormalities | 35.3% | 12/34 |
| < P3 : Decreased body weight | 20.6% | 7/34 |
| > P98 : Increased body weight | 14.7% | 5/34 |
| Current Head circumference abnormalities | 32.4% | 11/34 |
| < P3 : Microcephaly | 26.5% | 9/34 |
| > P98 : Macrocephaly | 5.9% | 2/34 |
| Neurology | ||
| Neurological abnormalities | 74.1% | 20/27 |
| Hypotonia | 44.4% | 12/27 |
| Attention deficit hyperactivity disorder | 29.6% | 8/27 |
| Autism | 22.2% | 6/27 |
| Hypertonia | 11.1% | 3/27 |
| Muscle weakness | 11.1% | 3/27 |
| Seizure | 11.1% | 3/27 |
| Generalized hypotonia | 7.4% | 2/27 |
| Hyperactive patellar reflex | 7.4% | 2/27 |
| Auditory agnosia | 3.7% | 1/27 |
| Axial hypotonia | 3.7% | 1/27 |
| Brisk reflexes | 3.7% | 1/27 |
| Broad-based gait | 3.7% | 1/27 |
| Gait disturbance | 3.7% | 1/27 |
| Hyporeflexia | 3.7% | 1/27 |
| Poor fine motor coordination | 3.7% | 1/27 |
| Vocal cord paralysis | 3.7% | 1/27 |
| Behavioral problems | 65.0% | 13/20 |
| Anxiety | 35.0% | 7/20 |
| Fatigue | 10.0% | 2/20 |
| Anger | 5.0% | 1/20 |
| Autistic behavior | 5.0% | 1/20 |
| Motor stereotypy | 5.0% | 1/20 |
| No social interaction | 5.0% | 1/20 |
| Obsessive-compulsive trait | 5.0% | 1/20 |
| Repetitive compulsive behavior | 5.0% | 1/20 |
| Restricted or repetitive behaviors or interests | 5.0% | 1/20 |
| Self-biting | 5.0% | 1/20 |
| Self-injurious behavior | 5.0% | 1/20 |
| Sensory behavioral abnormality | 5.0% | 1/20 |
| Severe photosensitivity | 5.0% | 1/20 |
| Short attention span | 5.0% | 1/20 |
| Stereotypical body rocking | 5.0% | 1/20 |
| Brain abnormality | 82.4% | 14/17 |
| Microcephaly | 23.5% | 4/17 |
| Abnormal third ventricle morphology | 5.9% | 1/17 |
| Abnormal lateral ventricle morphology | 5.9% | 1/17 |
| Abnormal subarachnoid space morphology | 5.9% | 1/17 |
| Abnormal cerebral white matter morphology | 5.9% | 1/17 |
| Abnormal posterior pituitary morphogenesis | 5.9% | 1/17 |
| Anophthalmia | 5.9% | 1/17 |
| Arachnoid cyst | 5.9% | 1/17 |
| Cavum septum pellucidum | 5.9% | 1/17 |
| Cerebral atrophy | 5.9% | 1/17 |
| Empty sella turcica | 5.9% | 1/17 |
| Enlarged cisterna magna | 5.9% | 1/17 |
| Hypodysplasia of the corpus callosum | 5.9% | 1/17 |
| Lateral ventricle dilatation | 5.9% | 1/17 |
| Optic nerve hypoplasia | 5.9% | 1/17 |
| Periventricular leukomalacia | 5.9% | 1/17 |
| Widened subarachnoid space | 5.9% | 1/17 |
| Facial abnormalities | ||
| Abnormality of the ear | 67.9% | 19/28 |
| Abnormality of the ear | 71.4% | 20/28 |
| Low-set ears | 28.6% | 8/28 |
| Abnormal external ear cartilage morphology | 7.1% | 2/28 |
| Abnormality of the middle ear | 7.1% | 2/28 |
| Cupped ear | 7.1% | 2/28 |
| Microtia | 7.1% | 2/28 |
| obsolete Low-set, posteriorly rotated ears | 7.1% | 2/28 |
| Abnormality of the outer ear | 3.6% | 1/28 |
| Auricular tag | 3.6% | 1/28 |
| Large fleshy ears | 3.6% | 1/28 |
| Linear earlobe crease | 3.6% | 1/28 |
| Preauricular pit | 3.6% | 1/28 |
| Abnormality of the eye | 100.0% | 34/34 |
| Hypertelorism | 26.5% | 9/34 |
| Iris coloboma | 26.5% | 9/34 |
| Astigmatism | 23.5% | 8/34 |
| Epicanthus | 17.6% | 6/34 |
| Exotropia | 17.6% | 6/34 |
| Microphthalmia | 17.6% | 6/34 |
| Ptosis | 17.6% | 6/34 |
| Stellate iris | 17.6% | 6/34 |
| Synophrys | 17.6% | 6/34 |
| Downslanted palpebral fissures | 14.7% | 5/34 |
| Strabismus | 14.7% | 5/34 |
| Lagophthalmos | 8.8% | 3/34 |
| Long palpebral fissure | 8.8% | 3/34 |
| Nystagmus | 8.8% | 3/34 |
| Peters anomaly | 8.8% | 3/34 |
| Short palpebral fissure | 8.8% | 3/34 |
| Ankyloblepharon | 5.9% | 2/34 |
| Chorioretinal coloboma | 5.9% | 2/34 |
| Distichiasis | 5.9% | 2/34 |
| Esotropia | 5.9% | 2/34 |
| Long eyelashes | 5.9% | 2/34 |
| Abnormality of the palpebral fissures | 2.9% | 1/34 |
| Abnormal blood vessel morphology | 2.9% | 1/34 |
| Anophthalmia | 2.9% | 1/34 |
| Blue irides | 2.9% | 1/34 |
| Broad lateral eyebrow | 2.9% | 1/34 |
| Brushfield spots | 2.9% | 1/34 |
| Cataract | 2.9% | 1/34 |
| Congenital hypertrophy of retinal pigment epithelium | 2.9% | 1/34 |
| Deeply set eye | 2.9% | 1/34 |
| Glaucoma | 2.9% | 1/34 |
| Highly arched eyebrow | 2.9% | 1/34 |
| Horizontal eyebrow | 2.9% | 1/34 |
| Hypoplasia of the fovea | 2.9% | 1/34 |
| Lacrimal duct stenosis | 2.9% | 1/34 |
| Microcornea | 2.9% | 1/34 |
| Nasolacrimal duct obstruction | 2.9% | 1/34 |
| obsolete Prominent epicanthal folds | 2.9% | 1/34 |
| Optic disc coloboma | 2.9% | 1/34 |
| Periorbital fullness | 2.9% | 1/34 |
| Pigmentary retinopathy | 2.9% | 1/34 |
| Proptosis | 2.9% | 1/34 |
| Remnants of the hyaloid vascular system | 2.9% | 1/34 |
| Retinal dysplasia | 2.9% | 1/34 |
| Retinopathy | 2.9% | 1/34 |
| Telecanthus | 2.9% | 1/34 |
| Thick eyebrow | 2.9% | 1/34 |
| Upslanted palpebral fissure | 2.9% | 1/34 |
| Abnormality of the nose | 64.0% | 16/25 |
| Anteverted nares | 20.0% | 5/25 |
| Short nose | 20.0% | 5/25 |
| Depressed nasal bridge | 12.0% | 3/25 |
| Prominent nasal bridge | 12.0% | 3/25 |
| Wide nose | 12.0% | 3/25 |
| Abnormal morphology of the nasal alae | 4.0% | 1/25 |
| Abnormal external nose morphology | 4.0% | 1/25 |
| Broad nasal tip | 4.0% | 1/25 |
| Choanal stenosis | 4.0% | 1/25 |
| Prominent nasal tip | 4.0% | 1/25 |
| Short nasal bridge | 4.0% | 1/25 |
| Thick nasal alae | 4.0% | 1/25 |
| Wide nasal bridge | 4.0% | 1/25 |
| Abnormality of the mouth | 86.2% | 25/29 |
| Long philtrum | 20.7% | 6/29 |
| Short philtrum | 13.8% | 4/29 |
| Thin upper lip vermilion | 13.8% | 4/29 |
| High palate | 10.3% | 3/29 |
| Micrognathia | 10.3% | 3/29 |
| Retrognathia | 10.3% | 3/29 |
| Broad philtrum | 6.9% | 2/29 |
| Cleft soft palate | 6.9% | 2/29 |
| Exaggerated cupid's bow | 6.9% | 2/29 |
| Increased overbite | 6.9% | 2/29 |
| Thin lower lip vermilion | 6.9% | 2/29 |
| Thin vermilion border | 6.9% | 2/29 |
| Widely spaced teeth | 6.9% | 2/29 |
| Abnormal mandible morphology | 3.4% | 1/29 |
| Abnormality of upper lip vermillion | 3.4% | 1/29 |
| Ankyloglossia | 3.4% | 1/29 |
| Cleft palate | 3.4% | 1/29 |
| Dental malocclusion | 3.4% | 1/29 |
| Downturned corners of mouth | 3.4% | 1/29 |
| Macroglossia | 3.4% | 1/29 |
| Malar flattening | 3.4% | 1/29 |
| Mandibular prognathia | 3.4% | 1/29 |
| Microretrognathia | 3.4% | 1/29 |
| Microdontia | 3.4% | 1/29 |
| obsolete Anterior open bite | 3.4% | 1/29 |
| Short uvula | 3.4% | 1/29 |
| Submucous cleft palate | 3.4% | 1/29 |
| Tented upper lip vermilion | 3.4% | 1/29 |
| Thick vermilion border | 3.4% | 1/29 |
| Torus palatinus | 3.4% | 1/29 |
| Wide mouth | 3.4% | 1/29 |
| Visual and hearing impairments | ||
| Abnormal hearing | 24.0% | 6/25 |
| Sensorineural hearing impairment | 8.0% | 2/25 |
| Bilateral sensorineural hearing impairment | 4.0% | 1/25 |
| Mid-frequency hearing loss | 4.0% | 1/25 |
| Progressive sensorineural hearing impairment | 4.0% | 1/25 |
| Unilateral sensorineural hearing impairment | 4.0% | 1/25 |
| Abnormal vision | 70.4% | 19/27 |
| Myopia | 37.0% | 10/27 |
| Abnormality of vision | 11.1% | 3/27 |
| Hypermetropia | 11.1% | 3/27 |
| Abnormal optic chiasm morphology | 3.7% | 1/27 |
| Aplasia of the optic tract | 3.7% | 1/27 |
| Astigmatism | 3.7% | 1/27 |
| Exotropia | 3.7% | 1/27 |
| Optic nerve aplasia | 3.7% | 1/27 |
| Optic nerve hypoplasia | 3.7% | 1/27 |
| Persistent pupillary membrane | 3.7% | 1/27 |
| Heart | ||
| Abnormality of the heart | 53.8% | 14/26 |
| Atrial septal defect | 23.1% | 6/26 |
| Patent foramen ovale | 11.5% | 3/26 |
| Pulmonic stenosis | 11.5% | 3/26 |
| Patent ductus arteriosus | 7.7% | 2/26 |
| Ventricular septal defect | 7.7% | 2/26 |
| Paroxysmal supraventricular tachycardia | 3.8% | 1/26 |
| Persistent left superior vena cava | 3.8% | 1/26 |
| Pulmonary | ||
| Abnormality of the lungs | 40.0% | 2/5 |
| Sleep apnea | 20.0% | 1/5 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 81.8% | 9/11 |
| Feeding difficulties | 63.6% | 7/11 |
| Constipation | 18.2% | 2/11 |
| Decreased liver function | 9.1% | 1/11 |
| Gastric diverticulum | 9.1% | 1/11 |
| Intestinal malrotation | 9.1% | 1/11 |
| Urogenital | ||
| Abnormality of the urogenital system | 45.8% | 11/24 |
| Hydronephrosis | 16.7% | 4/24 |
| Cryptorchidism | 12.5% | 3/24 |
| Ureteral duplication | 8.3% | 2/24 |
| Vesicoureteral reflux | 8.3% | 2/24 |
| Abnormal renal morphology | 4.2% | 1/24 |
| Abnormality of the kidney | 4.2% | 1/24 |
| Dilatation of the renal pelvis | 4.2% | 1/24 |
| Grade III vesicoureteral reflux | 4.2% | 1/24 |
| Nephrolithiasis | 4.2% | 1/24 |
| Renal cyst | 4.2% | 1/24 |
| Skeleton | ||
| Skeletal abnormalities | 74.2% | 23/31 |
| Clinodactyly of the 5th finger | 16.1% | 5/31 |
| Small hand | 16.1% | 5/31 |
| Pes planus | 9.7% | 3/31 |
| 2-3 toe syndactyly | 9.7% | 3/31 |
| Genu recurvatum | 6.5% | 2/31 |
| Hallux valgus | 6.5% | 2/31 |
| Hyperextensible hand joints | 6.5% | 2/31 |
| Kyphosis | 6.5% | 2/31 |
| obsolete Ligamentous laxity | 6.5% | 2/31 |
| Pectus excavatum | 6.5% | 2/31 |
| Scapular winging | 6.5% | 2/31 |
| Scoliosis | 6.5% | 2/31 |
| Short finger | 6.5% | 2/31 |
| Tapered finger | 6.5% | 2/31 |
| Tibial torsion | 6.5% | 2/31 |
| Aplasia/hypoplasia affecting bones of the axial skeleton | 3.2% | 1/31 |
| Brachydactyly | 3.2% | 1/31 |
| Brachycephaly | 3.2% | 1/31 |
| Broad palm | 3.2% | 1/31 |
| Congenital diaphragmatic hernia | 3.2% | 1/31 |
| Deep palmar crease | 3.2% | 1/31 |
| Hyperextensibility at elbow | 3.2% | 1/31 |
| Mild short stature | 3.2% | 1/31 |
| Plagiocephaly | 3.2% | 1/31 |
| Preaxial hand polydactyly | 3.2% | 1/31 |
| Prominent fingertip pads | 3.2% | 1/31 |
| Sacral dimple | 3.2% | 1/31 |
| Sandal gap | 3.2% | 1/31 |
| Short foot | 3.2% | 1/31 |
| Short stature | 3.2% | 1/31 |
| Single transverse palmar crease | 3.2% | 1/31 |
| Talipes varus | 3.2% | 1/31 |
| Thoracic kyphosis | 3.2% | 1/31 |
| 1-2 toe syndactyly | 3.2% | 1/31 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 51.9% | 14/27 |
| Abnormality of the skin | 59.3% | 16/27 |
| Hypertrichosis | 11.1% | 3/27 |
| Bruising susceptibility | 7.4% | 2/27 |
| Eczematoid dermatitis | 7.4% | 2/27 |
| Low anterior hairline | 7.4% | 2/27 |
| Abnormal thumb morphology | 3.7% | 1/27 |
| Abnormality of the palmar creases | 3.7% | 1/27 |
| Abnormal skin morphology | 3.7% | 1/27 |
| Brittle hair | 3.7% | 1/27 |
| Dry skin | 3.7% | 1/27 |
| Excessive wrinkled skin | 3.7% | 1/27 |
| Peripheral edema | 3.7% | 1/27 |
| Silver-gray hair | 3.7% | 1/27 |
| Single transverse palmar crease | 3.7% | 1/27 |
| Skin dimple | 3.7% | 1/27 |
| Small nail | 3.7% | 1/27 |
| Spotty hyperpigmentation | 3.7% | 1/27 |
| Thick hair | 3.7% | 1/27 |
| Urticaria | 3.7% | 1/27 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 1/1 |
| Decreased circulating serum insulin-like growth factor 1 concentration | 100.0% | 1/1 |
| Abnormality of the immune system | 100.0% | 1/1 |
| Thyroid hypoplasia | 100.0% | 1/1 |