MSL3
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 60.5% | 26/43 |
| Female | 39.5% | 17/43 |
| Indifferent | 0% | 0/43 |
| Unknown | 0% | 0/43 |
| General | ||
| Birth Length abnormalities | 0% | 0/43 |
| Birth Weight abnormalities | 7.0% | 3/43 |
| > P98 : Large for gestational age | 2.3% | 1/43 |
| < P3 : Small for gestational age | 4.7% | 2/43 |
| Birth Head circumference abnormalities | 9.3% | 4/43 |
| > P98 : Macrocephaly at birth | 9.3% | 4/43 |
| Current Height abnormalities | 14.0% | 6/43 |
| < P3 : Short stature | 11.6% | 5/43 |
| > P98 : Tall stature | 2.3% | 1/43 |
| Current Weight abnormalities | 11.6% | 5/43 |
| > P98 : Increased body weight | 4.7% | 2/43 |
| < P3 : Decreased body weight | 7.0% | 3/43 |
| Current Head circumference abnormalities | 27.9% | 12/43 |
| > P98 : Macrocephaly | 27.9% | 12/43 |
| Neurology | ||
| Neurological abnormalities | 97.6% | 41/42 |
| Hypotonia | 73.8% | 31/42 |
| Progressive spasticity | 21.4% | 9/42 |
| Lower limb hyperreflexia | 19.0% | 8/42 |
| Spasticity | 16.7% | 7/42 |
| Ataxia | 11.9% | 5/42 |
| Seizure | 11.9% | 5/42 |
| Dystonia | 9.5% | 4/42 |
| Hypokinesia | 9.5% | 4/42 |
| Abnormality of movement | 4.8% | 2/42 |
| Axial hypotonia | 4.8% | 2/42 |
| Sleep disturbance | 4.8% | 2/42 |
| Anarthria | 2.4% | 1/42 |
| Bradykinesia | 2.4% | 1/42 |
| Cerebral palsy | 2.4% | 1/42 |
| Decreased facial expression | 2.4% | 1/42 |
| Delayed speech and language development | 2.4% | 1/42 |
| Dysarthria | 2.4% | 1/42 |
| Dysphagia | 2.4% | 1/42 |
| Dyspnea | 2.4% | 1/42 |
| Floppy infant | 2.4% | 1/42 |
| Generalized dystonia | 2.4% | 1/42 |
| Global developmental delay | 2.4% | 1/42 |
| Nystagmus | 2.4% | 1/42 |
| obsolete Infantile axial hypotonia | 2.4% | 1/42 |
| obsolete Poor coordination | 2.4% | 1/42 |
| Obstructive sleep apnea | 2.4% | 1/42 |
| Optic neuritis | 2.4% | 1/42 |
| Progressive spastic paraparesis | 2.4% | 1/42 |
| Reduced eye contact | 2.4% | 1/42 |
| Speech apraxia | 2.4% | 1/42 |
| Behavioral problems | 68.6% | 24/35 |
| Atypical behavior | 25.7% | 9/35 |
| Autism | 25.7% | 9/35 |
| Anxiety | 8.6% | 3/35 |
| Attention deficit hyperactivity disorder | 8.6% | 3/35 |
| Autistic behavior | 5.7% | 2/35 |
| Compulsive behaviors | 5.7% | 2/35 |
| Aggressive behavior | 2.9% | 1/35 |
| Hair-pulling | 2.9% | 1/35 |
| Impulsivity | 2.9% | 1/35 |
| Low frustration tolerance | 2.9% | 1/35 |
| Motor stereotypy | 2.9% | 1/35 |
| Polyphagia | 2.9% | 1/35 |
| Recurrent hand flapping | 2.9% | 1/35 |
| Self-injurious behavior | 2.9% | 1/35 |
| Brain abnormality | 57.7% | 15/26 |
| Lateral ventricle dilatation | 23.1% | 6/26 |
| Inferior cerebellar vermis hypoplasia | 19.2% | 5/26 |
| Ventriculomegaly | 19.2% | 5/26 |
| Aplasia of the inferior half of the cerebellar vermis | 11.5% | 3/26 |
| Dilation of Virchow-Robin spaces | 11.5% | 3/26 |
| Periventricular leukomalacia | 7.7% | 2/26 |
| Abnormal cerebellar vermis morphology | 3.8% | 1/26 |
| Abnormal periventricular white matter morphology | 3.8% | 1/26 |
| Cerebellar vermis hypoplasia | 3.8% | 1/26 |
| Colpocephaly | 3.8% | 1/26 |
| Encephalopathy | 3.8% | 1/26 |
| Hydrocephalus | 3.8% | 1/26 |
| Periventricular cysts | 3.8% | 1/26 |
| Suprasellar arachnoid cyst | 3.8% | 1/26 |
| Facial abnormalities | ||
| Abnormality of the ear | 60.0% | 24/40 |
| Abnormal pinna morphology | 32.5% | 13/40 |
| Low-set ears | 22.5% | 9/40 |
| Microtia | 5.0% | 2/40 |
| obsolete Low-set, posteriorly rotated ears | 5.0% | 2/40 |
| Overfolded helix | 5.0% | 2/40 |
| Preauricular skin tag | 5.0% | 2/40 |
| Thickened helices | 5.0% | 2/40 |
| Abnormal helix morphology | 2.5% | 1/40 |
| Anteverted ears | 2.5% | 1/40 |
| Macrotia | 2.5% | 1/40 |
| Overfolding of the superior helices | 2.5% | 1/40 |
| Posteriorly rotated ears | 2.5% | 1/40 |
| Prominent antihelix | 2.5% | 1/40 |
| Protruding ear | 2.5% | 1/40 |
| Abnormality of the eye | 75.6% | 31/41 |
| obsolete Prominent epicanthal folds | 41.5% | 17/41 |
| Downslanted palpebral fissures | 34.1% | 14/41 |
| Telecanthus | 29.3% | 12/41 |
| Hypertelorism | 12.2% | 5/41 |
| Deeply set eye | 9.8% | 4/41 |
| Long eyelashes | 4.9% | 2/41 |
| Abnormal retinal morphology | 2.4% | 1/41 |
| Abnormal eyebrow morphology | 2.4% | 1/41 |
| Blepharophimosis | 2.4% | 1/41 |
| Infra-orbital crease | 2.4% | 1/41 |
| obsolete Sparse and thin eyebrow | 2.4% | 1/41 |
| Periorbital fullness | 2.4% | 1/41 |
| Thick eyebrow | 2.4% | 1/41 |
| Abnormality of the nose | 45.0% | 18/40 |
| Wide nasal bridge | 35.0% | 14/40 |
| Anteverted nares | 15.0% | 6/40 |
| Bulbous nose | 2.5% | 1/40 |
| Choanal stenosis | 2.5% | 1/40 |
| Long nose | 2.5% | 1/40 |
| Low insertion of columella | 2.5% | 1/40 |
| Thick nasal alae | 2.5% | 1/40 |
| Underdeveloped nasal alae | 2.5% | 1/40 |
| Abnormality of the mouth | 78.0% | 32/41 |
| Downturned corners of mouth | 31.7% | 13/41 |
| Smooth philtrum | 19.5% | 8/41 |
| Retrognathia | 17.1% | 7/41 |
| Thin upper lip vermilion | 9.8% | 4/41 |
| High palate | 7.3% | 3/41 |
| Tented upper lip vermilion | 7.3% | 3/41 |
| Dental crowding | 4.9% | 2/41 |
| Long philtrum | 4.9% | 2/41 |
| Protruding tongue | 4.9% | 2/41 |
| Cleft palate | 2.4% | 1/41 |
| Furrowed tongue | 2.4% | 1/41 |
| Microdontia | 2.4% | 1/41 |
| Microretrognathia | 2.4% | 1/41 |
| Narrow mouth | 2.4% | 1/41 |
| Short philtrum | 2.4% | 1/41 |
| Thick vermilion border | 2.4% | 1/41 |
| U-Shaped upper lip vermilion | 2.4% | 1/41 |
| Widely spaced teeth | 2.4% | 1/41 |
| Visual and hearing impairments | ||
| Abnormal hearing | 22.5% | 9/40 |
| Sensorineural hearing impairment | 10.0% | 4/40 |
| Conductive hearing impairment | 7.5% | 3/40 |
| Hearing impairment | 5.0% | 2/40 |
| Bilateral sensorineural hearing impairment | 2.5% | 1/40 |
| Abnormal vision | 45.8% | 11/24 |
| Exotropia | 12.5% | 3/24 |
| Strabismus | 12.5% | 3/24 |
| Visual impairment | 8.3% | 2/24 |
| Amblyopia | 4.2% | 1/24 |
| Anisocoria | 4.2% | 1/24 |
| Esotropia | 4.2% | 1/24 |
| Hypermetropia | 4.2% | 1/24 |
| Lacrimal duct stenosis | 4.2% | 1/24 |
| Myopia | 4.2% | 1/24 |
| Heart | ||
| Abnormality of the heart | 11.4% | 4/35 |
| Abnormality of the cardiovascular system | 2.9% | 1/35 |
| Aortic root aneurysm | 2.9% | 1/35 |
| Atrial septal defect | 2.9% | 1/35 |
| Patent foramen ovale | 2.9% | 1/35 |
| Pulmonic stenosis | 2.9% | 1/35 |
| Supraventricular tachycardia | 2.9% | 1/35 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 75.0% | 30/40 |
| Constipation | 42.5% | 17/40 |
| Gastroesophageal reflux | 30.0% | 12/40 |
| Feeding difficulties | 27.5% | 11/40 |
| Abdominal distention | 7.5% | 3/40 |
| Feeding difficulties in infancy | 7.5% | 3/40 |
| Vomiting | 5.0% | 2/40 |
| Celiac disease | 2.5% | 1/40 |
| Chronic constipation | 2.5% | 1/40 |
| Esophagitis | 2.5% | 1/40 |
| Gastritis | 2.5% | 1/40 |
| Rectal prolapse | 2.5% | 1/40 |
| Urogenital | ||
| Abnormality of the urogenital system | 16.7% | 6/36 |
| Cryptorchidism | 2.8% | 1/36 |
| Hydroureter | 2.8% | 1/36 |
| Hydronephrosis | 2.8% | 1/36 |
| Ureteropelvic junction obstruction | 2.8% | 1/36 |
| Urinary retention | 2.8% | 1/36 |
| Skeleton | ||
| Skeletal abnormalities | 68.4% | 26/38 |
| Short palm | 13.2% | 5/38 |
| Abnormality of the palmar creases | 10.5% | 4/38 |
| Pes planus | 10.5% | 4/38 |
| Tapered finger | 10.5% | 4/38 |
| Short foot | 7.9% | 3/38 |
| Short neck | 7.9% | 3/38 |
| Clinodactyly | 5.3% | 2/38 |
| Pectus carinatum | 5.3% | 2/38 |
| Plagiocephaly | 5.3% | 2/38 |
| Adducted thumb | 2.6% | 1/38 |
| Arachnodactyly | 2.6% | 1/38 |
| Broad foot | 2.6% | 1/38 |
| Camptodactyly | 2.6% | 1/38 |
| Flexion contracture | 2.6% | 1/38 |
| Kyphosis | 2.6% | 1/38 |
| Limb undergrowth | 2.6% | 1/38 |
| Metaphyseal dysplasia | 2.6% | 1/38 |
| Rhizomelia | 2.6% | 1/38 |
| Short stature | 2.6% | 1/38 |
| Slender toe | 2.6% | 1/38 |
| Thoracic kyphosis | 2.6% | 1/38 |
| Thumb contracture | 2.6% | 1/38 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 51.4% | 19/37 |
| Thick hair | 27.0% | 10/37 |
| Eczematoid dermatitis | 8.1% | 3/37 |
| Nevus | 8.1% | 3/37 |
| Blepharitis | 2.7% | 1/37 |
| Bruising susceptibility | 2.7% | 1/37 |
| Facial erythema | 2.7% | 1/37 |
| Freckling | 2.7% | 1/37 |
| Hemangioma | 2.7% | 1/37 |
| Hypermelanotic macule | 2.7% | 1/37 |
| Hyperhidrosis | 2.7% | 1/37 |
| Hypoplastic nipples | 2.7% | 1/37 |
| Pallor | 2.7% | 1/37 |
| Short nail | 2.7% | 1/37 |