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Opsismodysplasia(OPSMD)

MedGen UID:
140927
Concept ID:
C0432219
Disease or Syndrome
Synonym: OPSMD
SNOMED CT: Opsismodysplasia (254068007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): INPPL1 (11q13.4)
 
Monarch Initiative: MONDO:0009785
OMIM®: 258480
Orphanet: ORPHA2746

Definition

Opsismodysplasia (OPSMD) is a rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death in utero or secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges (summary by Below et al., 2013 and Fradet and Fitzgerald, 2017). [from OMIM]

Clinical features

From HPO
Renal phosphate wasting
MedGen UID:
335116
Concept ID:
C1845169
Finding
High urine phosphate in the presence of hypophosphatemia.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Flat acetabular roof
MedGen UID:
373340
Concept ID:
C1837485
Finding
Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Rhizomelia
MedGen UID:
357122
Concept ID:
C1866730
Congenital Abnormality
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Disproportionate short-limb short stature
MedGen UID:
342370
Concept ID:
C1849937
Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Protuberant abdomen
MedGen UID:
340750
Concept ID:
C1854928
Finding
A thrusting or bulging out of the abdomen.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Narrow chest
MedGen UID:
96528
Concept ID:
C0426790
Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Large fontanelles
MedGen UID:
105329
Concept ID:
C0456132
Finding
In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.
Metaphyseal cupping
MedGen UID:
323062
Concept ID:
C1837082
Finding
Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.
Posterior rib cupping
MedGen UID:
325182
Concept ID:
C1837483
Finding
Wide, concave posterior rib end.
Squared iliac bones
MedGen UID:
324963
Concept ID:
C1838186
Finding
A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.
Anterior rib cupping
MedGen UID:
337520
Concept ID:
C1846154
Finding
Wide, concave anterior rib end.
Odontoid hypoplasia
MedGen UID:
339524
Concept ID:
C1846439
Finding
The odontoid process, or dens, is a bony projection from the axis (C2) upward into the ring of the atlas (C1) at the top of the spine. During embryogenesis, the body of the odontoid derives from the centrum of the atlas and separates from the atlas, fusing with the superior portion of the axis. If the odontoid is hypoplastic or absent, the attachments for the apical and alar ligaments are missing, allowing for excessive rotation of the atlas, craniocervical instability, and possibly cord compression (summary by Stevens et al., 2009).
Relative macrocephaly
MedGen UID:
338607
Concept ID:
C1849075
Congenital Abnormality
A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.
Severe platyspondyly
MedGen UID:
338014
Concept ID:
C1850293
Finding
Short long bone
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Hypoplastic ischia
MedGen UID:
347146
Concept ID:
C1859447
Finding
Underdevelopment of the ischium, which forms the lower and back part of the hip bone.
Small foramen magnum
MedGen UID:
348813
Concept ID:
C1861217
Finding
An abnormal narrowing of the foramen magnum.
Hypoplastic vertebral bodies
MedGen UID:
354963
Concept ID:
C1863353
Congenital Abnormality
Hypoplastic pubic bone
MedGen UID:
355894
Concept ID:
C1865030
Finding
Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.
Bell-shaped thorax
MedGen UID:
351320
Concept ID:
C1865186
Finding
The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.
Delayed epiphyseal ossification
MedGen UID:
351324
Concept ID:
C1865200
Finding
Shallow orbits
MedGen UID:
351328
Concept ID:
C1865244
Finding
Reduced depth of the orbits associated with prominent-appearing ocular globes.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Respiratory insufficiency
MedGen UID:
11197
Concept ID:
C0035229
Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Edema
MedGen UID:
4451
Concept ID:
C0013604
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Hypophosphatemia
MedGen UID:
39327
Concept ID:
C0085682
Disease or Syndrome
An abnormally decreased phosphate concentration in the blood.
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
An abnormally increased height of the forehead.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Long palpebral fissure
MedGen UID:
340300
Concept ID:
C1849340
Finding
Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Soft, doughy skin
MedGen UID:
341366
Concept ID:
C1849043
Finding
A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Oligohydramnios
MedGen UID:
86974
Concept ID:
C0079924
Pathologic Function
Diminished amniotic fluid volume in pregnancy.
Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOpsismodysplasia
Follow this link to review classifications for Opsismodysplasia in Orphanet.

Recent clinical studies

Diagnosis

Lewis LE, Ramesh Bhat Y, Naik P, Sethi K, Girisha KM
Indian J Pediatr 2010 May;77(5):567-8. Epub 2010 Mar 19 doi: 10.1007/s12098-010-0043-z. PMID: 20422326
Zeger MD, Adkins D, Fordham LA, White KE, Schoenau E, Rauch F, Loechner KJ
J Pediatr Endocrinol Metab 2007 Jan;20(1):79-86. doi: 10.1515/jpem.2007.20.1.79. PMID: 17315533
Ramos FJ, González JP, Cortabarria C, Domenech E, Pérez-González J, Bueno M
Eur J Med Genet 2006 Jan-Feb;49(1):93-100. doi: 10.1016/j.ejmg.2005.04.002. PMID: 16473316
Zeman J, Baxova A, Houstkova H, Kozlowski K
Australas Radiol 1997 Feb;41(1):35-7. doi: 10.1111/j.1440-1673.1997.tb00465.x. PMID: 9125065
Beemer FA, Kozlowski KS
Am J Med Genet 1994 Feb 1;49(3):344-7. doi: 10.1002/ajmg.1320490321. PMID: 8209898

Therapy

Fradet A, Fitzgerald J
J Hum Genet 2017 Feb;62(2):135-140. Epub 2016 Oct 6 doi: 10.1038/jhg.2016.119. PMID: 27708270Free PMC Article

Prognosis

Feist C, Holden P, Fitzgerald J
Clin Dysmorphol 2016 Oct;25(4):152-5. doi: 10.1097/MCD.0000000000000136. PMID: 27233067Free PMC Article
Iida A, Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N, Ikegawa S
J Hum Genet 2013 Jun;58(6):391-4. Epub 2013 Apr 4 doi: 10.1038/jhg.2013.25. PMID: 23552673
Tyler K, Sarioglu N, Kunze J
Am J Med Genet 1999 Mar 5;83(1):47-52. doi: 10.1002/(sici)1096-8628(19990305)83:1<47::aid-ajmg9>3.0.co;2-5. PMID: 10076884

Clinical prediction guides

Ramos AR, Ghosh S, Suhel T, Chevalier C, Obeng EO, Fafilek B, Krejci P, Beck B, Erneux C
Adv Biol Regul 2020 Jan;75:100660. Epub 2019 Oct 7 doi: 10.1016/j.jbior.2019.100660. PMID: 31628071
Vande Catsyne CA, Sayyed SA, Molina-Ortiz P, Moes B, Communi D, Muller J, Heusschen R, Caers J, Azzi A, Erneux C, Schurmans S
Adv Biol Regul 2020 May;76:100651. Epub 2019 Sep 5 doi: 10.1016/j.jbior.2019.100651. PMID: 31519471
Ghosh S, Huber C, Siour Q, Sousa SB, Wright M, Cormier-Daire V, Erneux C
Hum Mutat 2017 Dec;38(12):1731-1739. Epub 2017 Sep 21 doi: 10.1002/humu.23321. PMID: 28869677
Feist C, Holden P, Fitzgerald J
Clin Dysmorphol 2016 Oct;25(4):152-5. doi: 10.1097/MCD.0000000000000136. PMID: 27233067Free PMC Article
Lewis LE, Ramesh Bhat Y, Naik P, Sethi K, Girisha KM
Indian J Pediatr 2010 May;77(5):567-8. Epub 2010 Mar 19 doi: 10.1007/s12098-010-0043-z. PMID: 20422326

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