Table 1.
Overlapping phenotypic and clinical features of disorders of transcriptional and chromatin regulation
| Wiedemann-Steiner syndrome | Cornelia de Lange syndrome | CHOPS syndromea | Coffin-Siris syndrome | Kabuki syndrome | Nicolaides Baraitser syndrome | Present patient | |
|---|---|---|---|---|---|---|---|
| Microcephaly (HP:0000252) | + | + | − | + | + | + | + |
| Round face (HP:0000311) | + | − | + | − | − | − | + |
| Synophrys (HP:0000664) | + | + | + | − | − | − | + |
| Ptosis (HP:0000508) | + | + | + | − | + | − | + |
| Hypertelorism (HP:0000316) | + | − | − | − | − | − | + |
| Telecanthus (HP:0000506) | + | − | − | − | − | − | − |
| Strabismus (HP:0000486) | − | + | + | − | + | − | − |
| Thick eyebrows (HP:0000574) | + | + | + | − | − | − | + |
| Long eyelashes (HP:0000527) | + | + | − | + | + | + | + |
| Short nose (HP:0003196) | + | + | + | − | − | − | + |
| Depressed nasal bridge (HP:0005280) | − | + | − | − | − | − | + |
| Wide nasal bridge (HP:0000431) | + | − | − | + | − | + | + |
| Long philtrum (HP:0000343) | + | + | + | + | − | + | + |
| Thin upper lip vermilion (HP:0000219) | + | + | + | + | − | + | + |
| Downturned corners of mouth (HP:0002714) | − | + | + | − | − | − | + |
| High palate (HP:0000218) | + | + | + | + | + | + | + |
| Micrognathia (HP:0000347) | − | + | + | − | − | − | + |
| Low-set ears (HP:0000369) | + | + | + | − | − | − | − |
| Clinodactyly of the 5th finger (HP:0004209) | + | + | − | − | − | − | Right hand |
| Tapered finger (HP:0001182) | + | − | − | − | − | − | + |
| Brachydactyly (HP:0001156) | − | − | + | + | − | + | + |
| Bilateral single transverse palmar creases (HP:0007598) | − | + | − | − | − | − | Unilateral |
| Generalized hirsutism (HP:0002230) | + | + | Facial | − | − | − | − |
| Congenital, generalized hypertrichosis (HP:0004540) | + | − | − | − | − | − | + |
| Muscular hypotonia (HP:0001252) | + | + | − | − | + | − | + (mild) |
| Delayed gross motor development (HP:0002194) | + | + | − | − | − | − | + |
| Global developmental delay (HP:0001263) | − | − | + | + | − | + | + |
| Postnatal growth retardation (HP:0008897) | + | + | − | − | − | − | + |
| Short stature (HP:0004322) | + | + | + | + | + | + | + |
| Failure to thrive (HP:0001508) | + | + | − | − | + | − | + |
| Feeding difficulties (HP:0011968) | + | + | + | − | + | − | − |
| Intellectual disability (HP:0001249) | + | + | + | + | − | + | Too young |
| Delayed speech and language development (HP:0000750) | + | − | − | − | − | − | Too young |
| Seizures (HP:0001250) | + | + | − | + | + | + | − |
Adapted with the information included in https://www.orpha.net/consor/cgi-bin/Disease/Search.php?lng=EN.
a
CHOPS, Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia.