Table 2.
Clinical syndromes and additional anomalies by category
| Clinical syndrome/Additional anomalies | Genetic cause (N/N tested) |
|---|---|
| MM-associated | |
| Defined syndrome: 0/78 (0%) | |
| Additional physical anomalies: 3/78 (4%) | |
| MM with structural cardiac (1), atypical thoracic MM with vert seg defects, absent L kidney, absent R testis, structural cardiac (1), atypical thoracic MM with multiple vert seg defects (1) |
|
|
| |
| Proximal obstruction | |
| Defined syndrome: 8/59 (14%) | |
| Aqueductal stenosis without additional findings (47), including HSAS. | L1CAM (6/8) |
| Muscle-eye-brain (2) | POMGNT1 (2/2) |
| Additional physical anomalies without defined syndrome: 1/51 (2%) | |
| Unilateral anophthalmia (1) | |
|
| |
| Distal obstruction | |
| Defined syndrome: 15/25 (60%) | |
| Crouzon (4) | FGFR2 (1/1) |
| Pfeiffer (3) | FGFR2 (3/3) |
| Carpenter (1) | Not tested |
| Achondroplasia (3) | FGFR3 (1/1) |
| Thanatophoric dysplasia (1) | FGFR3 (1/1) |
| Spondyloepiphyseal dysplasia (1) | Not tested |
| Undefined skeletal dysplasia | FGFR3 (0/1) |
| MPPH (1) | PiK3CA/AKT3 pathway genes not tested |
| Additional physical anomalies without defined syndrome 2/10 (20%) | |
| Additional anomalies: unilateral microphthalmia (with megalencephaly), upper cervical fusion anomaly | |
|
| |
| Cysts and cephaloceles | |
| Defined syndrome: 3/39 (8%) | |
| Chudley-McCullough (1) | GPSM2 (1/1) |
| Oro-facial-digital type 1 (1) | OFD1 not tested |
| Opitz G/BBB (1) | MID1 not tested |
| Additional physical anomalies without defined syndrome: 7/36 (19%) | |
| Cysts in multiple organ systems and polysyndactyly (1), multicystic kidneys (1), ambiguous genitalia and polydactyly (1), syndactyly and limb reduction with skin appendages (1), structural renal with vert seg defects and interrupted aortic arch (1), vert seg defects and cleft palate (1), structural renal (1), TEF (1) | (OFD1 0/1,other genes not known/not tested) |
|
| |
| Communicating | |
| Defined syndrome: 2/31 (6%) | |
| Cardio-facio-cutaneous with pulmonic stenosis (1) | BRAF (1/1) |
| Gorlin (1) | PTCH1 not tested |
| Additional physical anomalies without defined syndrome: 4/29 (14%) | |
| CDH (3), structural cardiac (1) | (genes not known) |
MM: myelomeningocele, HSAS: Hydrocephalus with Stenosis of the Aqueduct of Sylvius (associated with L1CAM mutations), TEF: tracheoesophageal fistula, MPPH: megalencephaly, polydactyly, polymicrogyria and hydrocephalus syndrome.