Type | Sexa | Prognosis | Skeletal dysplasia | Craniofacial anomaly | Other features |
---|---|---|---|---|---|
MNS | Male | Similar with OPD type 2 but more severe manifestation, dies during embryonic period. | |||
Female | 1.Substantial variability is observed in females. 2. Normal fertility 3. Normal intelligence | 1. Flexed upper limbs 2. Postaxial polydactyly 3. Bowed limb 4. Clubfeet 5. Kyphoscoliosis 6. Short stature 7. Thoracic hypoplasia 8. Joint subluxation | 1. Large fontanelles 2. Malar flattening 3. Bilateral cleft palate 4. Bifid tongue 5. Severe micrognathia 6. Prominent supraorbital ridges 7. Proptosis 8. Full cheeks | 1. Fibrosis of pancreas and spleen 2. Bilateral cystic renal dysplasia 2ndary to obstructive uropathy and omphalocele 3. Oligohypodontia 4. Hearing loss (Common) 5. Hydronephrosis 2ndary to ureteric obstruction (Common) 6. Bleeding diathesis | |
OPS type 1 | Male | 1. Phenotypes are evident at birth. 2. No late-onset orthopedic complications 3. Normal life span 4. Normal fertility 5. Normal intelligence | 1. Hypoplasia of thumbs, distal phalanges, great toe, a long second toe 4. Joint contracture (Wrist, elbow) 5. Bowed limb (Mild) 6. Reduced stature (Mild) | 1. Supraorbital hyperostosis 2. Downslanted palpebral fissures 3. Widely spaced eyes 4. Wide nasal bridge and broad nasal tip | 1. Hearing loss 2. Cleft palate |
Female | Variable clinical severity | ||||
OPS type 2 | Male | 1. Neonatal lethality due to usually from thoracic hypoplasia resulting in pulmonary insufficiency 2. Developmental delay | 1. Thoracic hypoplasia 2. Bowed limb 3. Short stature 4. Hypoplasia of thumb & big toe 5. Delayed closure of fontanelles 6. Scoliosis | Similar with male of OPD type 1 but more severe manifestation | 1. Hearing loss 2. Cardiac septal defects 3. Omphalocele 4. Hydronephrosis 2ndary to ureteric obstruction 5. Hypospadias 6. Hydrocephalus, cerebellar hypoplasia |
Female | Usually present with a subclinical phenotype | ||||
FMD | Male | Normal intelligence | 1. Hypoplasia of distal phalanges 2. Progressive joint contractures (Hand IP & MP, wrist, elbow, knee, ankle) 3. Progressive scoliosis 4. Bowed limb | 1. Very pronounced supraorbital hyperostosis 2. Downslanted palpebral fissures 3. Widely spaced eyes | 1. Hearing loss 2. Oligohypodontia (Frequent) 3. Underdevelopment of the muscle around the shoulder girdle & in the intrinsic muscles of the hands (Common) 4. Subglottic stenosis 5. Urethral stenosis, and hydronephrosis |
Female | Characteristic craniofacial features similar to those of affected males | ||||
TODPD | Male | A male presentation of TODPD has never been described. | |||
Female | Normal intelligence | 1. Disorganized ossification of the carpals and metacarpals. 2. Marked camptodactyly 3. Bowed limbs 4. Radial head dislocation 5. Short stature 6. Scoliosis. | 1. Widely spaced eyes 2. Punched out hyperpigmented lesions characteristically over the temporal region. (Unlike the fibromata, these lesions do not involute with age.) | 1. Digital fibromata appear in infancy, eventually involute before age ten years. 2. Cardiac septal defects 3. Ureteric obstruction (Occasional) 4. Alopecia (Variable) |