ADAMTSL2 autosomal recessive
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 47.4% | 9/19 |
| Female | 52.6% | 10/19 |
| Indifferent | 0% | 0/19 |
| Unknown | 0% | 0/19 |
| General | ||
| Birth Length abnormalities | 5.3% | 1/19 |
| < P3 : Birth length less than 3rd percentile | 5.3% | 1/19 |
| Birth Weight abnormalities | 5.3% | 1/19 |
| < P3 : Small for gestational age | 5.3% | 1/19 |
| Birth Head circumference abnormalities | 0% | 0/19 |
| Current Height abnormalities | 26.3% | 5/19 |
| < P3 : Short stature | 26.3% | 5/19 |
| Current Weight abnormalities | 15.8% | 3/19 |
| < P3 : Decreased body weight | 15.8% | 3/19 |
| Current Head circumference abnormalities | 5.3% | 1/19 |
| < P3 : Microcephaly | 5.3% | 1/19 |
| Neurology | ||
| Neurological abnormalities | 36.8% | 7/19 |
| Tip-toe gait | 15.8% | 3/19 |
| Constrictive median neuropathy | 10.5% | 2/19 |
| obsolete Toe walking | 10.5% | 2/19 |
| Exercise intolerance | 5.3% | 1/19 |
| Gait disturbance | 5.3% | 1/19 |
| Myalgia | 5.3% | 1/19 |
| Brain abnormality | 100.0% | 1/1 |
| Aqueductal stenosis | 100.0% | 1/1 |
| Hydrocephalus | 100.0% | 1/1 |
| J-shaped sella turcica | 100.0% | 1/1 |
| Facial abnormalities | ||
| Abnormality of the ear | 25.0% | 2/8 |
| Low-set ears | 12.5% | 1/8 |
| Thickened helices | 12.5% | 1/8 |
| Abnormality of the eye | 87.5% | 7/8 |
| Hypertelorism | 50.0% | 4/8 |
| Ptosis | 37.5% | 3/8 |
| Short palpebral fissure | 12.5% | 1/8 |
| Telecanthus | 12.5% | 1/8 |
| Upslanted palpebral fissure | 12.5% | 1/8 |
| Abnormality of the nose | 87.5% | 7/8 |
| Anteverted nares | 50.0% | 4/8 |
| Short nose | 37.5% | 3/8 |
| Wide nasal bridge | 37.5% | 3/8 |
| Depressed nasal bridge | 25.0% | 2/8 |
| Thick nasal alae | 12.5% | 1/8 |
| Abnormality of the mouth | 87.5% | 7/8 |
| Thin upper lip vermilion | 50.0% | 4/8 |
| Thin vermilion border | 25.0% | 2/8 |
| Ankyloglossia | 12.5% | 1/8 |
| Downturned corners of mouth | 12.5% | 1/8 |
| Furrowed tongue | 12.5% | 1/8 |
| Mandibular prognathia | 12.5% | 1/8 |
| Wide mouth | 12.5% | 1/8 |
| Visual and hearing impairments | ||
| Abnormal vision | 15.8% | 3/19 |
| Accommodative esotropia | 5.3% | 1/19 |
| Brown anomaly | 5.3% | 1/19 |
| Corneal astigmatism | 5.3% | 1/19 |
| Glaucoma | 5.3% | 1/19 |
| High myopia | 5.3% | 1/19 |
| Hypermetropia | 5.3% | 1/19 |
| Hypotropia | 5.3% | 1/19 |
| Increased corneal thickness | 5.3% | 1/19 |
| Keratoconus | 5.3% | 1/19 |
| Lens subluxation | 5.3% | 1/19 |
| Microspherophakia | 5.3% | 1/19 |
| Heart | ||
| Abnormality of the heart | 68.4% | 13/19 |
| Mitral regurgitation | 42.1% | 8/19 |
| Pulmonic stenosis | 42.1% | 8/19 |
| Tricuspid regurgitation | 21.1% | 4/19 |
| Abnormal heart valve morphology | 15.8% | 3/19 |
| Aortic valve stenosis | 15.8% | 3/19 |
| Supravalvular aortic stenosis | 15.8% | 3/19 |
| Systolic heart murmur | 15.8% | 3/19 |
| Elevated pulmonary artery pressure | 10.5% | 2/19 |
| Abnormal ventricular septum morphology | 5.3% | 1/19 |
| Abnormal mitral valve morphology | 5.3% | 1/19 |
| Abnormal tricuspid valve morphology | 5.3% | 1/19 |
| Abnormal aortic valve physiology | 5.3% | 1/19 |
| Abnormal inferior vena cava morphology | 5.3% | 1/19 |
| Biventricular hypertrophy | 5.3% | 1/19 |
| Heart murmur | 5.3% | 1/19 |
| Left atrial enlargement | 5.3% | 1/19 |
| Left ventricular hypertrophy | 5.3% | 1/19 |
| Mitral valve prolapse | 5.3% | 1/19 |
| Palpitations | 5.3% | 1/19 |
| Pulmonary hypoplasia | 5.3% | 1/19 |
| Right atrial enlargement | 5.3% | 1/19 |
| Right ventricular hypertrophy | 5.3% | 1/19 |
| Secundum atrial septal defect | 5.3% | 1/19 |
| Pulmonary | ||
| Abnormality of the lungs | 57.1% | 8/14 |
| Asthma | 28.6% | 4/14 |
| Abnormal pulmonary interstitial morphology | 7.1% | 1/14 |
| Abnormal respiratory system morphology | 7.1% | 1/14 |
| Cyanosis | 7.1% | 1/14 |
| Pneumonia | 7.1% | 1/14 |
| Respiratory failure requiring assisted ventilation | 7.1% | 1/14 |
| Tracheal stenosis | 7.1% | 1/14 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 15.8% | 3/19 |
| Abdominal distention | 5.3% | 1/19 |
| Bloody diarrhea | 5.3% | 1/19 |
| Hepatomegaly | 5.3% | 1/19 |
| Urogenital | ||
| Abnormality of the urogenital system | 5.3% | 1/19 |
| Amenorrhea | 5.3% | 1/19 |
| Skeleton | ||
| Skeletal abnormalities | 81.3% | 13/16 |
| Hip dysplasia | 31.3% | 5/16 |
| Short foot | 31.3% | 5/16 |
| Small hand | 31.3% | 5/16 |
| Brachydactyly | 25.0% | 4/16 |
| Elbow flexion contracture | 18.8% | 3/16 |
| Acromelia | 12.5% | 2/16 |
| Decreased finger mobility | 12.5% | 2/16 |
| Limb undergrowth | 12.5% | 2/16 |
| Limited elbow movement | 12.5% | 2/16 |
| Multiple joint contractures | 12.5% | 2/16 |
| Short long bone | 12.5% | 2/16 |
| Short tubular bones of the hand | 12.5% | 2/16 |
| Short pointed phalanges | 12.5% | 2/16 |
| Achilles tendon contracture | 6.3% | 1/16 |
| Acromesomelia | 6.3% | 1/16 |
| Ankle flexion contracture | 6.3% | 1/16 |
| Broad foot | 6.3% | 1/16 |
| Broad palm | 6.3% | 1/16 |
| Coarse metaphyseal trabecularization | 6.3% | 1/16 |
| Cone-shaped epiphysis | 6.3% | 1/16 |
| Coxa vara | 6.3% | 1/16 |
| Flexion contracture | 6.3% | 1/16 |
| Genu varum | 6.3% | 1/16 |
| Hypoplastic iliac wing | 6.3% | 1/16 |
| Hypoplastic iliac body | 6.3% | 1/16 |
| Irregular capital femoral epiphysis | 6.3% | 1/16 |
| Joint stiffness | 6.3% | 1/16 |
| Knee flexion contracture | 6.3% | 1/16 |
| Limited hip movement | 6.3% | 1/16 |
| Limited wrist movement | 6.3% | 1/16 |
| Limited knee flexion/extension | 6.3% | 1/16 |
| Limited shoulder movement | 6.3% | 1/16 |
| Lumbar hyperlordosis | 6.3% | 1/16 |
| Os odontoideum | 6.3% | 1/16 |
| Ovoid vertebral bodies | 6.3% | 1/16 |
| Short neck | 6.3% | 1/16 |
| Shortening of all metacarpals | 6.3% | 1/16 |
| Short toe | 6.3% | 1/16 |
| Small toe | 6.3% | 1/16 |
| Thoracolumbar scoliosis | 6.3% | 1/16 |
| Wormian bones | 6.3% | 1/16 |
| Wrist flexion contracture | 6.3% | 1/16 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 26.3% | 5/19 |
| Thickened skin | 15.8% | 3/19 |
| Facial capillary hemangioma | 5.3% | 1/19 |
| Fine hair | 5.3% | 1/19 |
| Hypertrichosis | 5.3% | 1/19 |
| Long eyelashes | 5.3% | 1/19 |
| Single transverse palmar crease | 5.3% | 1/19 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 15.8% | 3/19 |
| Respiratory infections in early life | 10.5% | 2/19 |
| Recurrent respiratory infections | 5.3% | 1/19 |