MSL3
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 63.4% | 26/41 |
| Female | 36.6% | 15/41 |
| Indifferent | 0% | 0/41 |
| Unknown | 0% | 0/41 |
| General | ||
| Birth Length abnormalities | 0% | 0/41 |
| Birth Weight abnormalities | 7.3% | 3/41 |
| > P98 : Large for gestational age | 2.4% | 1/41 |
| < P3 : Small for gestational age | 4.9% | 2/41 |
| Birth Head circumference abnormalities | 9.8% | 4/41 |
| > P98 : Macrocephaly at birth | 9.8% | 4/41 |
| Current Height abnormalities | 14.6% | 6/41 |
| < P3 : Short stature | 12.2% | 5/41 |
| > P98 : Tall stature | 2.4% | 1/41 |
| Current Weight abnormalities | 12.2% | 5/41 |
| > P98 : Increased body weight | 4.9% | 2/41 |
| < P3 : Decreased body weight | 7.3% | 3/41 |
| Current Head circumference abnormalities | 29.3% | 12/41 |
| > P98 : Macrocephaly | 29.3% | 12/41 |
| Neurology | ||
| Neurological abnormalities | 97.5% | 39/40 |
| Muscular hypotonia | 77.5% | 31/40 |
| Progressive spasticity | 22.5% | 9/40 |
| Lower limb hyperreflexia | 20.0% | 8/40 |
| Spasticity | 17.5% | 7/40 |
| Ataxia | 12.5% | 5/40 |
| Seizures | 12.5% | 5/40 |
| Dystonia | 10.0% | 4/40 |
| Hypokinesia | 10.0% | 4/40 |
| Abnormality of movement | 5.0% | 2/40 |
| Muscular hypotonia of the trunk | 5.0% | 2/40 |
| Sleep disturbance | 5.0% | 2/40 |
| Anarthria | 2.5% | 1/40 |
| Bradykinesia | 2.5% | 1/40 |
| Cerebral palsy | 2.5% | 1/40 |
| Decreased facial expression | 2.5% | 1/40 |
| Dysarthria | 2.5% | 1/40 |
| Dysphagia | 2.5% | 1/40 |
| Dyspnea | 2.5% | 1/40 |
| Generalized dystonia | 2.5% | 1/40 |
| Infantile axial hypotonia | 2.5% | 1/40 |
| Infantile muscular hypotonia | 2.5% | 1/40 |
| Nystagmus | 2.5% | 1/40 |
| Obstructive sleep apnea | 2.5% | 1/40 |
| Optic neuritis | 2.5% | 1/40 |
| Poor eye contact | 2.5% | 1/40 |
| Poor coordination | 2.5% | 1/40 |
| Progressive spastic paraparesis | 2.5% | 1/40 |
| Speech apraxia | 2.5% | 1/40 |
| Behavioral problems | 66.7% | 22/33 |
| Autism | 27.3% | 9/33 |
| Behavioral abnormality | 27.3% | 9/33 |
| Anxiety | 9.1% | 3/33 |
| Attention deficit hyperactivity disorder | 9.1% | 3/33 |
| Obsessive-compulsive behavior | 6.1% | 2/33 |
| Autistic behavior | 3.0% | 1/33 |
| Hair-pulling | 3.0% | 1/33 |
| Recurrent hand flapping | 3.0% | 1/33 |
| Self-injurious behavior | 3.0% | 1/33 |
| Brain abnormality | 54.2% | 13/24 |
| Dilation of lateral ventricles | 25.0% | 6/24 |
| Inferior vermis hypoplasia | 20.8% | 5/24 |
| Ventriculomegaly | 20.8% | 5/24 |
| Aplasia of the inferior half of the cerebellar vermis | 12.5% | 3/24 |
| Perivascular spaces | 8.3% | 2/24 |
| Periventricular leukomalacia | 8.3% | 2/24 |
| Cerebellar vermis hypoplasia | 4.2% | 1/24 |
| Colpocephaly | 4.2% | 1/24 |
| Encephalopathy | 4.2% | 1/24 |
| Hydrocephalus | 4.2% | 1/24 |
| Periventricular cysts | 4.2% | 1/24 |
| Suprasellar arachnoid cyst | 4.2% | 1/24 |
| Facial abnormalities | ||
| Abnormality of the ear | 63.2% | 24/38 |
| Abnormality of the pinna | 34.2% | 13/38 |
| Low-set ears | 23.7% | 9/38 |
| Low-set, posteriorly rotated ears | 5.3% | 2/38 |
| Microtia | 5.3% | 2/38 |
| Overfolded helix | 5.3% | 2/38 |
| Preauricular skin tag | 5.3% | 2/38 |
| Thickened helices | 5.3% | 2/38 |
| Abnormality of the helix | 2.6% | 1/38 |
| Anteverted ears | 2.6% | 1/38 |
| Macrotia | 2.6% | 1/38 |
| Overfolding of the superior helices | 2.6% | 1/38 |
| Posteriorly rotated ears | 2.6% | 1/38 |
| Prominent antihelix | 2.6% | 1/38 |
| Protruding ear | 2.6% | 1/38 |
| Abnormality of the eye | 76.9% | 30/39 |
| Prominent epicanthal folds | 43.6% | 17/39 |
| Downslanted palpebral fissures | 35.9% | 14/39 |
| Telecanthus | 30.8% | 12/39 |
| Hypertelorism | 12.8% | 5/39 |
| Deeply set eye | 7.7% | 3/39 |
| Long eyelashes | 5.1% | 2/39 |
| Abnormality of the retina | 2.6% | 1/39 |
| Abnormality of the eyebrow | 2.6% | 1/39 |
| Infra-orbital crease | 2.6% | 1/39 |
| Periorbital fullness | 2.6% | 1/39 |
| Thick eyebrow | 2.6% | 1/39 |
| Abnormality of the nose | 44.7% | 17/38 |
| Wide nasal bridge | 36.8% | 14/38 |
| Anteverted nares | 15.8% | 6/38 |
| Bulbous nose | 2.6% | 1/38 |
| Choanal stenosis | 2.6% | 1/38 |
| Long nose | 2.6% | 1/38 |
| Thick nasal alae | 2.6% | 1/38 |
| Abnormality of the mouth | 79.5% | 31/39 |
| Downturned corners of mouth | 33.3% | 13/39 |
| Smooth philtrum | 20.5% | 8/39 |
| Retrognathia | 17.9% | 7/39 |
| High palate | 7.7% | 3/39 |
| Tented upper lip vermilion | 7.7% | 3/39 |
| Thin upper lip vermilion | 7.7% | 3/39 |
| Dental crowding | 5.1% | 2/39 |
| Long philtrum | 5.1% | 2/39 |
| Protruding tongue | 5.1% | 2/39 |
| Cleft palate | 2.6% | 1/39 |
| Furrowed tongue | 2.6% | 1/39 |
| Microdontia | 2.6% | 1/39 |
| Narrow mouth | 2.6% | 1/39 |
| Short philtrum | 2.6% | 1/39 |
| Thick vermilion border | 2.6% | 1/39 |
| U-Shaped upper lip vermilion | 2.6% | 1/39 |
| Widely spaced teeth | 2.6% | 1/39 |
| Visual and hearing impairments | ||
| Abnormal hearing | 23.7% | 9/38 |
| Sensorineural hearing impairment | 10.5% | 4/38 |
| Conductive hearing impairment | 7.9% | 3/38 |
| Hearing impairment | 5.3% | 2/38 |
| Bilateral sensorineural hearing impairment | 2.6% | 1/38 |
| Abnormal vision | 50.0% | 11/22 |
| Exotropia | 13.6% | 3/22 |
| Strabismus | 13.6% | 3/22 |
| Visual impairment | 9.1% | 2/22 |
| Amblyopia | 4.5% | 1/22 |
| Anisocoria | 4.5% | 1/22 |
| Esotropia | 4.5% | 1/22 |
| Hypermetropia | 4.5% | 1/22 |
| Lacrimal duct stenosis | 4.5% | 1/22 |
| Myopia | 4.5% | 1/22 |
| Heart | ||
| Abnormality of the heart | 11.8% | 4/34 |
| Abnormality of the cardiovascular system | 2.9% | 1/34 |
| Aortic root dilatation | 2.9% | 1/34 |
| Atria septal defect | 2.9% | 1/34 |
| Patent foramen ovale | 2.9% | 1/34 |
| Pulmonic stenosis | 2.9% | 1/34 |
| Supraventricular tachycardia | 2.9% | 1/34 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 78.9% | 30/38 |
| Constipation | 44.7% | 17/38 |
| Gastroesophageal reflux | 31.6% | 12/38 |
| Feeding difficulties | 28.9% | 11/38 |
| Abdominal distention | 7.9% | 3/38 |
| Feeding difficulties in infancy | 7.9% | 3/38 |
| Vomiting | 5.3% | 2/38 |
| Celiac disease | 2.6% | 1/38 |
| Chronic constipation | 2.6% | 1/38 |
| Esophagitis | 2.6% | 1/38 |
| Gastritis | 2.6% | 1/38 |
| Rectal prolapse | 2.6% | 1/38 |
| Urogenital | ||
| Abnormality of the urogenital system | 17.6% | 6/34 |
| Cryptorchidism | 2.9% | 1/34 |
| Hydroureter | 2.9% | 1/34 |
| Hydronephrosis | 2.9% | 1/34 |
| Ureteropelvic junction obstruction | 2.9% | 1/34 |
| Urinary retention | 2.9% | 1/34 |
| Skeleton | ||
| Skeletal abnormalities | 72.2% | 26/36 |
| Short palm | 13.9% | 5/36 |
| Abnormality of the palmar creases | 11.1% | 4/36 |
| Pes planus | 11.1% | 4/36 |
| Tapered finger | 11.1% | 4/36 |
| Short neck | 8.3% | 3/36 |
| Short foot | 8.3% | 3/36 |
| Clinodactyly | 5.6% | 2/36 |
| Pectus carinatum | 5.6% | 2/36 |
| Plagiocephaly | 5.6% | 2/36 |
| Adducted thumb | 2.8% | 1/36 |
| Arachnodactyly | 2.8% | 1/36 |
| Broad foot | 2.8% | 1/36 |
| Camptodactyly | 2.8% | 1/36 |
| Flexion contracture | 2.8% | 1/36 |
| Flexion contracture of thumb | 2.8% | 1/36 |
| Kyphosis | 2.8% | 1/36 |
| Limb undergrowth | 2.8% | 1/36 |
| Metaphyseal dysplasia | 2.8% | 1/36 |
| Rhizomelia | 2.8% | 1/36 |
| Short stature | 2.8% | 1/36 |
| Slender toe | 2.8% | 1/36 |
| Thoracic kyphosis | 2.8% | 1/36 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 54.3% | 19/35 |
| Thick hair | 28.6% | 10/35 |
| Eczema | 8.6% | 3/35 |
| Nevus | 8.6% | 3/35 |
| Blepharitis | 2.9% | 1/35 |
| Bruising susceptibility | 2.9% | 1/35 |
| Facial erythema | 2.9% | 1/35 |
| Freckling | 2.9% | 1/35 |
| Hemangioma | 2.9% | 1/35 |
| Hyperhidrosis | 2.9% | 1/35 |
| Hypermelanotic macule | 2.9% | 1/35 |
| Hypoplastic nipples | 2.9% | 1/35 |
| Pallor | 2.9% | 1/35 |
| Short nail | 2.9% | 1/35 |