Table 2.
Clinical signs of patients #95, #80, #173 and #103 compared to typical features of RSTS, KS, BOPS and WDSTS
| RSTS | #95 | KS | #80 | #173 | BOPS | #103 | WDSTS | |
|---|---|---|---|---|---|---|---|---|
| Gene with pathogenetic variant | KMT2D | ASXL1 | ASXL1 | KMT2A | ||||
| c.6040C>T, p.(Q2014*) | c.3856C>T, p.(Q1286*) | c.4243C>T, p.(R1415*) | c.5363 + ldelG | |||||
| Date of birth | 2006 | 1993 | 1994 | 2001 | ||||
| Time of clinical assessment | 2007 | 2006 | 2011 | 2008 | ||||
| Sex | male | male | male | male | ||||
| Dysmorphisms | ||||||||
| Low anterior hairline | + | − | − | − | + | + | − | − |
| Long eyelashes | + | + | − | + | + | − | + | + |
| Synophrys | +/− | − | − | + | + | − | + | + |
| Ptosis | + | + | + | − | − | − | − | − |
| Downslanting palpebral fissures | + | − | − | + | + | − | + | + |
| Upslanting palpebral fissures | − | − | − | − | − | + | − | − |
| Eversion of the lateral third of lower eyelid | − | + | + | − | − | − | − | − |
| Thick eyebrows | +/− | − | − | + | + | − | + | + |
| Narrow palpebral fissures | − | − | − | − | + | − | + | + |
| Hypertelorism | + | − | − | + | + | + | + | + |
| Prominent eyes | − | − | − | + | − | + | − | − |
| Low hanging columella | + | − | − | + | + | − | + | − |
| Broad nasal tip | − | + | − | + | + | − | + | − |
| Convex and wide nasal bridge | + | − | + | − | − | + | − | + |
| Anteverted nares | − | − | − | − | − | + | − | − |
| Thin lips | − | + | + | − | − | − | + | + |
| Facial grimacing | + | − | + | − | + | − | + | − |
| Microstomia | − | + | − | − | − | − | + | + |
| High-arched palate | + | − | + | + | na | − | + | + |
| Cleft lip/palate | − | − | + | − | + (cleft lip) | + | − | − |
| Micrognathia | + | + | + | + | + | + | + | + |
| Low set ears | + | + | — | + | +(with increased posterior angulation) | + | + | + |
| Strabismus | + | + | − | + | + | + | − | + |
| Flammeus nevus/angioma | +/− | − | − | − | − | + | + | − |
| Hypotonic facies with full cheeks | − | − | − | − | + | + | − | − |
| Growth failure | ||||||||
| IUGR | − | + | − | − | + | + | + | + |
| Birth parameters: weight–length–OFC (percentiles) | 25° to 3° to na | na(referred as normal) | <3° to <3° to 10° | <10° to 15° to 50° | ||||
| PNGR | + | + | + | − | + | + | + | + |
| PN (age) parameters: weight–height–OFC (percentiles) | 75°−10°−25° (9 y) | 25°−50°−98° (23 y) | 10°−3°−50°(21 y) | nk | ||||
| Intellectual disability | + | + (moderate) | + | + (severe) | + (severe) | + | + (moderate) | + |
| Speech delay/absence | +/− | + | +/− | + | + | + | − | + |
| Behavioral problems | +/− | − | +/− | +(hyperkinesis, agitation) | +(aggressivity, agitation) | + | − | + |
| Vision problems | ||||||||
| Myopia | + | + (and hypermetropic astigma-tism) | + (and hypermetropic astigma-tism) | + | — | |||
| Hearing loss | − | +/− | na | − | − | |||
| Teeth anomalies | + | +(absence of superior lateral incisors) | + | +(enamel hypoplasia, hypo-dontia) | +(absence of superior lateral incisors) | — | — | + |
| Musculoskeletal anomalies | ||||||||
| Broad thumbs | + | + | − | − | − | − | + | − |
| Angulated thumbs | +/− | − | − | − | − | − | − | − |
| Broad halluces | + | + | − | − | + | − | + | − |
| Clinodactyly | + | + | + | + | − | − | + | +/− |
| Brachydactyly | + | + | − | − | − | + | + | − |
| Camptodactyly | − | − | − | + | + | − | − | |
| Microcephaly | + | − | + | − | + | + | + | − |
| Trigonocephaly | − | − | − | − | − | + | − | + |
| Delayed bone age | + | − | − | + | na | − | − | + |
| Fetal fingertip pads | − | + | + | + | − | − | + | − |
| BOPS posture | − | − | − | − | − | + | − | − |
| Fixed contractures | − | − | − | + | − | + | − | − |
| Hypotonia | + | + | − | + | − | + | + | + |
| Organ anomalies | ||||||||
| Genitourinary anomalies | + | + (CO) | + | − | − | − | + (CO) | − |
| Heart defect | + | − | + | − | − | + | − | + |
| Brain anomalies | + | − | − | + (HCC) | + (ACC) | + | − | + |
| Seizures | + | + | − | + | + | + | + | − |
| Hypertrichosis | + | + | + | − | + | + | + | + |
| Keloids/naevi | + | − | − | − | − | +/− | − | − |
| Pilomatricoma | + | − | − | − | − | − | − | − |
| Frequent infections | + | − | + | − | − | + | − | − |
| Feeding problems | + | + | − | + | − | + | − | +/− |
| Gastroesophageal reflux | + | − | + | + | − | + | − | − |
| Others | Hypomobility, absence of superior lateral incisors, hypothyroidism, GH therapy for short stature | Buphthalmos; dolichocephaly; hyperreflexia; joint hyper-mobility, enamel hypolasia; abnormal tooth number | Acanthosis nigricans, striae distensae and erythema (chest); hepatomegaly, compulsive food research and eating; astigmatism, hypermetria | Kyphosis, pectus excavatum, obesity | ||||
Sign: + means present, sign − absent and sign +/− present in a few cases
ACC agenesis of corpus callosum, CO cryptorchidism, HCC hypoplasia of corpus callosum, na not assessed, nk not known