OPD1
(male
phenotype)
| Cleft palate & characteristic facies: prominent supraorbital ridges, downslanted palpebral fissures, hypertelorism, broad nasal bridge & nasal tip, hypodontia, oligodontia | Digits: short proximally placed thumbs, hypoplastic distal phalanges, great toe hypoplasia, long 2nd toe, prominent sandal gap; limited joint mobility; limbs w/mild bowing | Conductive & sensorineural hearing loss; normal intelligence |
| Heterozygous females 1: variable features; some females as affected as male relatives. |
OPD2
(male
phenotype)
| Pierre Robin sequence; characteristic facies (more severe than OPD1) | Digits: hypoplastic thumbs & great toes, absent halluces, camptodactyly; thoracic hypoplasia; delayed closure of fontanelles; bowed limbs; short stature | Conductive & SNHL; cardiac: septal defects, obstructive lesions to the right ventricular outflow tract; omphalocele; GU: ureteric obstruction w/hydronephrosis, hypospadias; CNS: hydrocephalus, cerebellar hypoplasia; DD; death in neonatal period |
| Heterozygous females 1: often subclinical phenotype; characteristic facies (prominent supraorbital ridges, wide nasal bridge & broad nasal tip) are most common findings. Occasionally conductive HL, cleft palate, skeletal & digital anomalies. |
FMD1
(male
phenotype)
| Characteristic facies (more severe than OPD2) | Digits: distal phalangeal hypoplasia, progressive contractures of the hands; limited joint mobility (wrists, elbows, knees, ankles); scoliosis; bowed limbs | Conductive & SNHL; underdevelopment of musculature (shoulder girdle, intrinsic muscles of the hands); subglottic stenosis w/congenital stridor; GU: ureteric & urethral stenosis, hydronephrosis; normal intelligence |
| Heterozygous females: characteristic facies similar to affected males |
MNS
(female
phenotype)
| Prominent lateral margins of the supraorbital ridges, proptosis, full cheeks, micrognathia, oligohypodontia, facial asymmetry | Digits: long w/mild distal phalangeal hypoplasia; thoracic hypoplasia; bowed limbs; joint subluxation; short stature | Conductive & SNHL; ureteric obstruction w/hydronephrosis; coloboma; normal intelligence |
| Hemizygous males: phenotype ranges from lethal phenotype similar to severe OPD2 to mildly affected. |
TODPD
(female
phenotype)
| Widely spaced eyes, oral frenulae, hyperpigmented lesions over the temporal region, alopecia | Digits: fibromata in infancy, camptodactyly; bowed limbs; short stature | Cardiac: septal defects; normal intelligence |
| Hemizygous males: phenotype has not been described in males. |
