RAC3
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 37.5% | 6/16 |
| Female | 62.5% | 10/16 |
| Indifferent | 0% | 0/16 |
| Unknown | 0% | 0/16 |
| General | ||
| Birth Length abnormalities | 12.5% | 2/16 |
| < P3 : Birth length less than 3rd percentile | 12.5% | 2/16 |
| Birth Weight abnormalities | 12.5% | 2/16 |
| < P3 : Small for gestational age | 12.5% | 2/16 |
| Birth Head circumference abnormalities | 0% | 0/16 |
| Current Height abnormalities | 25.0% | 4/16 |
| < P3 : Short stature | 25.0% | 4/16 |
| Current Weight abnormalities | 31.3% | 5/16 |
| < P3 : Decreased body weight | 31.3% | 5/16 |
| Current Head circumference abnormalities | 18.8% | 3/16 |
| < P3 : Microcephaly | 18.8% | 3/16 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 16/16 |
| Generalized hypotonia | 62.5% | 10/16 |
| Delayed ability to sit | 43.8% | 7/16 |
| Visual gaze preference | 43.8% | 7/16 |
| Delayed ability to walk | 37.5% | 6/16 |
| Dysphagia | 25.0% | 4/16 |
| Global developmental delay | 25.0% | 4/16 |
| Seizure | 25.0% | 4/16 |
| Appendicular spasticity | 18.8% | 3/16 |
| Delayed ability to stand | 18.8% | 3/16 |
| Limb hypertonia | 18.8% | 3/16 |
| Absent speech | 12.5% | 2/16 |
| Autism | 12.5% | 2/16 |
| Delayed ability to crawl | 12.5% | 2/16 |
| Moderate global developmental delay | 12.5% | 2/16 |
| Neonatal hypotonia | 12.5% | 2/16 |
| Poor fine motor coordination | 12.5% | 2/16 |
| Sleep disturbance | 12.5% | 2/16 |
| Apraxia | 6.3% | 1/16 |
| Auditory hypersensitivity | 6.3% | 1/16 |
| Axial hypotonia | 6.3% | 1/16 |
| Babinski sign | 6.3% | 1/16 |
| Cerebral palsy | 6.3% | 1/16 |
| Clumsiness | 6.3% | 1/16 |
| Delayed ability to roll over | 6.3% | 1/16 |
| Delayed ability to walk with support | 6.3% | 1/16 |
| EEG with focal sharp waves | 6.3% | 1/16 |
| EEG with generalized epileptiform discharges | 6.3% | 1/16 |
| EEG with polyspike wave complexes | 6.3% | 1/16 |
| Floppy infant | 6.3% | 1/16 |
| Focal tonic seizure | 6.3% | 1/16 |
| Gait disturbance | 6.3% | 1/16 |
| Gaze avoidance | 6.3% | 1/16 |
| Hyperreflexia | 6.3% | 1/16 |
| Hypotonia | 6.3% | 1/16 |
| Hypsarrhythmia | 6.3% | 1/16 |
| Incoordination | 6.3% | 1/16 |
| Infantile spasms | 6.3% | 1/16 |
| Loss of speech | 6.3% | 1/16 |
| Motor stereotypy | 6.3% | 1/16 |
| obsolete Infantile axial hypotonia | 6.3% | 1/16 |
| Poor head control | 6.3% | 1/16 |
| Postural instability | 6.3% | 1/16 |
| Recurrent hand flapping | 6.3% | 1/16 |
| Severe global developmental delay | 6.3% | 1/16 |
| Sleep apnea | 6.3% | 1/16 |
| Spastic tetraplegia | 6.3% | 1/16 |
| Speech apraxia | 6.3% | 1/16 |
| Stereotypical hand wringing | 6.3% | 1/16 |
| Typical absence seizure | 6.3% | 1/16 |
| Behavioral problems | 20.0% | 3/15 |
| Aggressive behavior | 13.3% | 2/15 |
| Autism | 6.7% | 1/15 |
| Hair-pulling | 6.7% | 1/15 |
| Insomnia | 6.7% | 1/15 |
| Irritability | 6.7% | 1/15 |
| Self-injurious behavior | 6.7% | 1/15 |
| Brain abnormality | 100.0% | 16/16 |
| Hypoplasia of the corpus callosum | 56.3% | 9/16 |
| Cerebellar dysplasia | 43.8% | 7/16 |
| Cerebral white matter atrophy | 43.8% | 7/16 |
| Polymicrogyria | 37.5% | 6/16 |
| Widened subarachnoid space | 37.5% | 6/16 |
| Agenesis of the anterior commissure | 25.0% | 4/16 |
| Dysgyria | 25.0% | 4/16 |
| Hydrocephalus | 25.0% | 4/16 |
| Lateral ventricle dilatation | 25.0% | 4/16 |
| Absent septum pellucidum | 18.8% | 3/16 |
| Brachycephaly | 18.8% | 3/16 |
| Cortical dysplasia | 18.8% | 3/16 |
| Hypoplasia of the pons | 18.8% | 3/16 |
| Arachnoid cyst | 12.5% | 2/16 |
| Chiari type I malformation | 12.5% | 2/16 |
| Colpocephaly | 12.5% | 2/16 |
| Hippocampal malrotation | 12.5% | 2/16 |
| Abnormal basal ganglia morphology | 6.3% | 1/16 |
| Abnormal septum pellucidum morphology | 6.3% | 1/16 |
| Agenesis of corpus callosum | 6.3% | 1/16 |
| Aplasia/Hypoplasia of the cerebral white matter | 6.3% | 1/16 |
| Bilateral polymicrogyria | 6.3% | 1/16 |
| Corpus callosum atrophy | 6.3% | 1/16 |
| Decreased thalamic volume | 6.3% | 1/16 |
| Gray matter heterotopia | 6.3% | 1/16 |
| Hypoplasia of the frontal lobes | 6.3% | 1/16 |
| Interhypothalamic adhesion | 6.3% | 1/16 |
| Optic nerve hypoplasia | 6.3% | 1/16 |
| Partial agenesis of the corpus callosum | 6.3% | 1/16 |
| Reduced cerebral white matter volume | 6.3% | 1/16 |
| Short corpus callosum | 6.3% | 1/16 |
| Thick corpus callosum | 6.3% | 1/16 |
| Facial abnormalities | ||
| Abnormality of the ear | 33.3% | 5/15 |
| Cupped ear | 6.7% | 1/15 |
| Large earlobe | 6.7% | 1/15 |
| Macrotia | 6.7% | 1/15 |
| Posteriorly rotated ears | 6.7% | 1/15 |
| Prominent ear helix | 6.7% | 1/15 |
| Simple ear | 6.7% | 1/15 |
| Abnormality of the eye | 81.3% | 13/16 |
| Hypertelorism | 31.3% | 5/16 |
| Downslanted palpebral fissures | 18.8% | 3/16 |
| Deeply set eye | 12.5% | 2/16 |
| Highly arched eyebrow | 12.5% | 2/16 |
| Upslanted palpebral fissure | 12.5% | 2/16 |
| Dermatochalasis | 6.3% | 1/16 |
| Epicanthus | 6.3% | 1/16 |
| Esotropia | 6.3% | 1/16 |
| Exodeviation | 6.3% | 1/16 |
| Exotropia | 6.3% | 1/16 |
| Horizontal nystagmus | 6.3% | 1/16 |
| Long eyelashes | 6.3% | 1/16 |
| Nystagmus | 6.3% | 1/16 |
| Prominent glabella | 6.3% | 1/16 |
| Proptosis | 6.3% | 1/16 |
| Ptosis | 6.3% | 1/16 |
| Telecanthus | 6.3% | 1/16 |
| Abnormality of the nose | 56.3% | 9/16 |
| Anteverted nares | 18.8% | 3/16 |
| Broad columella | 18.8% | 3/16 |
| Depressed nasal bridge | 12.5% | 2/16 |
| Broad nasal tip | 6.3% | 1/16 |
| Broad philtrum | 6.3% | 1/16 |
| Narrow nasal tip | 6.3% | 1/16 |
| Prominent nasal tip | 6.3% | 1/16 |
| Short philtrum | 6.3% | 1/16 |
| Short nose | 6.3% | 1/16 |
| Underdeveloped nasal alae | 6.3% | 1/16 |
| Wide nasal bridge | 6.3% | 1/16 |
| Wide nasal base | 6.3% | 1/16 |
| Abnormality of the mouth | 60.0% | 9/15 |
| Deep philtrum | 13.3% | 2/15 |
| High palate | 13.3% | 2/15 |
| Micrognathia | 13.3% | 2/15 |
| Pointed chin | 13.3% | 2/15 |
| Thick vermilion border | 13.3% | 2/15 |
| Abnormality of dental structure | 6.7% | 1/15 |
| Abnormal upper lip morphology | 6.7% | 1/15 |
| Abnormal dental morphology | 6.7% | 1/15 |
| Chin with horizontal crease | 6.7% | 1/15 |
| Dental crowding | 6.7% | 1/15 |
| Drooling | 6.7% | 1/15 |
| Impaired mastication | 6.7% | 1/15 |
| Long philtrum | 6.7% | 1/15 |
| Macroglossia | 6.7% | 1/15 |
| Oligodontia | 6.7% | 1/15 |
| Retrognathia | 6.7% | 1/15 |
| Visual and hearing impairments | ||
| Abnormal hearing | 12.5% | 2/16 |
| Mild conductive hearing impairment | 6.3% | 1/16 |
| Abnormal vision | 31.3% | 5/16 |
| Hypermetropia | 18.8% | 3/16 |
| Astigmatism | 12.5% | 2/16 |
| Esotropia | 6.3% | 1/16 |
| Myopia | 6.3% | 1/16 |
| Heart | ||
| Abnormality of the heart | 13.3% | 2/15 |
| Systolic heart murmur | 6.7% | 1/15 |
| Ventricular septal defect | 6.7% | 1/15 |
| Pulmonary | ||
| Abnormality of the lungs | 18.2% | 2/11 |
| Apneic episodes in infancy | 9.1% | 1/11 |
| Bronchitis | 9.1% | 1/11 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 53.3% | 8/15 |
| Gastrostomy tube feeding in infancy | 26.7% | 4/15 |
| Gastroesophageal reflux | 20.0% | 3/15 |
| Constipation | 13.3% | 2/15 |
| Failure to thrive | 13.3% | 2/15 |
| Tube feeding | 6.7% | 1/15 |
| Vomiting | 6.7% | 1/15 |
| Urogenital | ||
| Abnormality of the urogenital system | 31.3% | 5/16 |
| Bilateral cryptorchidism | 6.3% | 1/16 |
| Bilateral renal hypoplasia | 6.3% | 1/16 |
| Enuresis | 6.3% | 1/16 |
| Enuresis nocturna | 6.3% | 1/16 |
| External genital hypoplasia | 6.3% | 1/16 |
| Ovarian cyst | 6.3% | 1/16 |
| Skeleton | ||
| Skeletal abnormalities | 75.0% | 12/16 |
| Kyphoscoliosis | 25.0% | 4/16 |
| Pes planus | 18.8% | 3/16 |
| Brachydactyly | 12.5% | 2/16 |
| Brachycephaly | 12.5% | 2/16 |
| Proximal placement of thumb | 12.5% | 2/16 |
| Scoliosis | 12.5% | 2/16 |
| Short foot | 12.5% | 2/16 |
| Small hand | 12.5% | 2/16 |
| Abnormal forearm bone morphology | 6.3% | 1/16 |
| Abnormal cervical spine morphology | 6.3% | 1/16 |
| Arachnodactyly | 6.3% | 1/16 |
| Clinodactyly of the 5th toe | 6.3% | 1/16 |
| Clinodactyly | 6.3% | 1/16 |
| Craniosynostosis | 6.3% | 1/16 |
| Decreased hip abduction | 6.3% | 1/16 |
| Delayed closure of the anterior fontanelle | 6.3% | 1/16 |
| Dysharmonic accelerated bone age | 6.3% | 1/16 |
| Generalized joint hypermobility | 6.3% | 1/16 |
| Hip dislocation | 6.3% | 1/16 |
| Hip subluxation | 6.3% | 1/16 |
| Joint hypermobility | 6.3% | 1/16 |
| Knee flexion contracture | 6.3% | 1/16 |
| Narrow joint spaces of wrist | 6.3% | 1/16 |
| obsolete 2-5 finger syndactyly | 6.3% | 1/16 |
| Prominent fingertip pads | 6.3% | 1/16 |
| Scaphocephaly | 6.3% | 1/16 |
| Small fontanelle | 6.3% | 1/16 |
| Ulnar deviation of the wrist | 6.3% | 1/16 |
| Vertebral compression fracture | 6.3% | 1/16 |
| 2-3 toe syndactyly | 6.3% | 1/16 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 26.7% | 4/15 |
| Abnormal hair morphology | 6.7% | 1/15 |
| Bridged palmar crease | 6.7% | 1/15 |
| Capillary hemangioma | 6.7% | 1/15 |
| Low posterior hairline | 6.7% | 1/15 |
| Melanocytic nevus | 6.7% | 1/15 |
| Supernumerary nipple | 6.7% | 1/15 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 25.0% | 4/16 |
| Decreased circulating carnitine concentration | 6.3% | 1/16 |
| Hypothyroidism | 6.3% | 1/16 |
| Precocious puberty | 6.3% | 1/16 |
| Truncal obesity | 6.3% | 1/16 |
| Abnormality of the metabolic system | 6.7% | 1/15 |
| Osteopenia | 6.7% | 1/15 |
| Abnormality of the immune system | 18.8% | 3/16 |
| Cow milk allergy | 6.3% | 1/16 |
| Recurrent otitis media | 6.3% | 1/16 |
| Recurrent upper respiratory tract infections | 6.3% | 1/16 |