| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
8 YR |
| Sex |
Male |
| |
| Data Elements |
| Clinical Element Type: Cornelia deLange |
| (Baseline) |
| Inheritance |
| Growth |
| Prenatal growth retardation |
present absent unknown |
| Short stature |
present absent unknown |
| Specific growth curves are available |
present absent unknown |
| Head and Neck |
| Microcephaly |
present absent unknown |
| Brachycephaly |
present absent unknown |
| Long philtrum |
present absent unknown |
| Micrognathia |
present absent unknown |
| Low-set ears |
present absent unknown |
| Hearing loss |
present absent unknown |
| Synophrys |
present absent unknown |
| Myopia |
present absent unknown |
| Long curly eyelashes |
present absent unknown |
| Anteverted nostrils |
present absent unknown |
| Depressed nasal bridge |
present absent unknown |
| Thin upper lip |
present absent unknown |
| Downturned corners of the mouth |
present absent unknown |
| High arched palate |
present absent unknown |
| Cleft lip/palate |
present absent unknown |
| Widely spaced teeth |
present absent unknown |
| Late-erupting teeth |
present absent unknown |
| Short neck |
present absent unknown |
| Cardiovascular |
| Congenital heart defect |
present absent unknown |
| Respiratory |
| Pneumonia |
present absent unknown |
| Congenital diaphragmatic hernia |
present absent unknown |
| Chest |
| Small nipples |
present absent unknown |
| Abdomen |
| Gastroesophageal reflux |
present absent unknown |
| Pyloric stenosis |
present absent unknown |
| Genitourinary |
| Hypoplastic male genitalia |
present absent unknown |
| Cryptorchidism |
present absent unknown |
| Skeletal |
| Limited elbow extension |
present absent unknown |
| Dislocation of the radial head |
present absent unknown |
| Phocomelia |
present absent unknown |
| Single transverse palmar crease |
present absent unknown |
| Proximally placed thumbs |
present absent unknown |
| Fifth finger clinodactyly |
present absent unknown |
| Oligodactyly |
present absent unknown |
| Syndactyly of toes 2 and 3 |
present absent unknown |
| Skin, Hair, Nails |
| Cutis marmorata |
present absent unknown |
| Single transverse palmar crease |
present absent unknown |
| Hirsutism |
present absent unknown |
| Low posterior hair line |
present absent unknown |
| Neurologic |
| Mental retardation |
present absent unknown |
| Hypertonicity |
present absent unknown |
| Developmental delay |
present absent unknown |
| Seizures |
present absent unknown |
| Voice |
| Low-pitched, growling cry in infancy |
present absent unknown |
| Molecular Basis |
| NIPBL gene mutation |
present absent unknown |
| SMC1L1 gene mutation |
present absent unknown |
| SMC3 gene mutation |
present absent unknown |
| Remarks |
46,XY in PBL; at age 8, weighs 35 lbs and has a borderline head circumference; hirsute; low post hairline; confluent eyebrows; long lashes; broad nasal bridge; prominent philtrum; high arched palate; micrognathia; clinodactyly of 5th fingers; web toes |