Table 2:
General phenotypic characteristics for MFDM individuals, both from this survey (n=47) and reported in the literature (n=123).
| Category | Feature | This survey, (%)†,‡ n = 47 | Reported, (%)† n = 123 |
|---|---|---|---|
| Craniofacial | Microcephaly | 44/47, (93.6%) | 100/114, (87.7%) |
| Hearing loss | 39/47, (83.0%) | 88/105, (83.8%) | |
| Conductive | NR | 37/52, (71.2%) | |
| Sensorineural | NR | 6/43, (14.0%) | |
| Cleft palate | 19/47, (40.3%) | 48/107, (44.9%) | |
| Micrognathia | NR | 107/110, (97.3%) | |
| External ear anomaly | NR | 103/109, (94.5%) | |
| Ear canal anomaly | NR | 59/88, (67.1%) | |
| Ossicular ear anomaly | NR | 13/29, (44.8%) | |
| Semicircular canal anomaly | NR | 20/39, (51.3%) | |
| Malar hypoplasia | NR | 87/94, (92.6%) | |
| Facial asymmetry | NR | 35/58, (60.3%) | |
| Zygomatic cleft | NR | 7/10 | |
| Airway | Choanal stenosis | 15/47, (31.9%) | 30/96, (31.3%) |
| Tracheosphageal fistula / Esophageal atresia | 10/47, (21.28%) | 32/88, (36.4%) | |
| Tracheo / laryngomalacia | 9/47, (19.2%) | 2/3 | |
| Obstructive sleep apnea | 12/47, (25.5%) | 1/2 | |
| Laryngeal cleft | 2 | 1 | |
| Laryngeal cyst | 1 | NR | |
| Interventions | Tracheostomy | 3/47, (6.4%) | 13/59, (22.0%) |
| Mandibular distraction osteogenesis | 8/47, (17.0%) | 1/2 | |
| T&A | 12/47, (25.53%) | NR | |
| G-tube placement | 12 | 5/15 | |
| Ear tube placement | 27 | NR | |
| Other anomalies | Congenital heart defect | 5 | 37/108, (34.3%) |
| ASD | 2 | 10/23 (43.5%) | |
| PDA | 2 | 5/13 | |
| Truncus arteriosus | 1 | NR | |
| VSD | NR | 11/28 (39.3%) | |
| PFO | NR | 3/4 | |
| Aortic arch anomaly | NR | 2/11 | |
| Peripheral pulmonic stenosis | NR | 1/7 | |
| Tetrology of Fallot | NR | 1/1 | |
| Any vision problem | 14/47, (29.8%) | 3/17, (17.7%) | |
| Astigmatism | 10/14 | 1/3 | |
| Myopia | 6/14 | 3/15 | |
| Hyperopia | 2/14 | NR | |
| Strabismus | 1/14 | 1/3 | |
| Short stature | 27/45, (60.0%) | 16/19 | |
| Seizures | 17/47, (36.2%) | 24/89, (27.0%) | |
| Kidney problems | 5/47, (10.64%) | 6/19 | |
| Limb anomaly | 3 | 30/99, (30.3%) | |
| Proximally placed thumb | NR | 12/29, (41.4%) | |
| Hypoplastic thumb | NR | 2/6 | |
| Duplicated thumb | NR | 2/20 (10%) | |
| Cryptorchidism | 2 | 4/44, (9.1%) | |
| Abnormal brain MRI | NR | 14/29, (48.3%) |
†
Percentages (%) are shown when the total n for a characteristic equals 20 or more reported occurrences
‡
When a feature was self-reported and not surveyed directly, a total denominator is not provided.
ASD = atrial septal defect, NR = not recorded, PDA = patent ductus arteriosus, PFO = patent foramen ovale, T&A = tonsillectomy and adenoidectomy, VSD = ventricular septal defect