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Table 2 Comparisons of key features of OPS spectrum disorders [6, 12, 18]

From: A family of Melnick-Needles syndrome: a case report

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)
  1. aIn general, female patient shows mild phenotype compared to male
  2. OPS Otopalatodigital syndrome, MNS Melnick-Needles syndrome, FMD Frontometaphyseal dysplasia, TODPD Terminal osseous dysplasia with pigmentary skin defects, IP Interphalangeal, MP Metacarpophalangeal