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Mesomelia-synostoses syndrome

MedGen UID:
324959
Concept ID:
C1838162
Disease or Syndrome
Synonyms: CHROMOSOME 8q13 DELETION SYNDROME; Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis; Mesomelia synostoses; MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES, VERLOES-DAVID-PFEIFFER TYPE; MESOMELIC DYSPLASIA, SYNDROMIC; Verloes-David syndrome
SNOMED CT: 8q13 microdeletion syndrome (724147004); Mesomelia synostoses syndrome Verloes David Pfeiffer type (724147004); Mesomelic dysplasia with acral synostoses Verloes David Pfeiffer type (724147004); Monosomy 8q13 (724147004); Verloes David syndrome (724147004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0010881
OMIM®: 600383
Orphanet: ORPHA2496

Definition

The Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, congenital heart disease, and ureteral anomalies (summary by Isidor et al., 2009). Mesomelia and synostoses are also cardinal features of the Kantaputra type of mesomelic dysplasia (156232). [from OMIM]

Clinical features

From HPO
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Micromelia
MedGen UID:
10031
Concept ID:
C0025995
Congenital Abnormality
The presence of abnormally small extremities.
Ulnar deviation of the hand
MedGen UID:
66031
Concept ID:
C0241521
Finding
Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).
Mesomelia
MedGen UID:
107808
Concept ID:
C0549306
Congenital Abnormality
Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.
Narrow foot
MedGen UID:
108395
Concept ID:
C0576227
Finding
A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Tibial bowing
MedGen UID:
332360
Concept ID:
C1837081
Finding
A bending or abnormal curvature of the tibia.
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).
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Ulnar deviation of the hand or of fingers of the hand
MedGen UID:
892857
Concept ID:
C4048199
Finding
Mesomelic short stature
MedGen UID:
340834
Concept ID:
C1855274
Finding
A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Abnormal vertebral morphology
MedGen UID:
371742
Concept ID:
C1834129
Anatomical Abnormality
An abnormality of one or more of the vertebrae.
Microretrognathia
MedGen UID:
326907
Concept ID:
C1839546
Finding
A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
Distal femoral bowing
MedGen UID:
395410
Concept ID:
C1860107
Finding
A bending or abnormal curvature of the distal portion of the femur.
Progressive forearm bowing
MedGen UID:
463370
Concept ID:
C3152020
Finding
Progressive bending or abnormal curvature of the forearm skeleton.
Partial fusion of proximal row of carpal bones
MedGen UID:
463371
Concept ID:
C3152021
Finding
Metacarpal synostosis
MedGen UID:
867040
Concept ID:
C4021398
Anatomical Abnormality
Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).
Tarsometatarsal synostosis
MedGen UID:
867755
Concept ID:
C4022144
Congenital Abnormality
Carpometacarpal synostosis
MedGen UID:
867756
Concept ID:
C4022145
Anatomical Abnormality
Fusion involving carpal and metacarpal bones.
Hypernasal speech
MedGen UID:
99115
Concept ID:
C0454555
Finding
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
Convex nasal ridge
MedGen UID:
66809
Concept ID:
C0240538
Finding
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
Absent uvula
MedGen UID:
75599
Concept ID:
C0266121
Congenital Abnormality
Lack of the uvula.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Telecanthus
MedGen UID:
140836
Concept ID:
C0423113
Finding
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Short umbilical cord
MedGen UID:
78620
Concept ID:
C0266786
Finding
Decreased length of the umbilical cord.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
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).
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMesomelia-synostoses syndrome
Follow this link to review classifications for Mesomelia-synostoses syndrome in Orphanet.

Recent clinical studies

Etiology

Isidor B, Hamel A, Plasschaert F, Claus L, Mercier JM, Mortier GR, Leroy JG, Verloes A, David A
Am J Med Genet A 2009 Oct;149A(10):2220-5. doi: 10.1002/ajmg.a.32926. PMID: 19725128

Diagnosis

Kohmoto T, Naruto T, Watanabe M, Fujita Y, Ujiro S, Okamoto N, Horikawa H, Masuda K, Imoto I
Am J Med Genet A 2017 Apr;173(4):1082-1086. doi: 10.1002/ajmg.a.38122. PMID: 28328141
Isidor B, Hamel A, Plasschaert F, Claus L, Mercier JM, Mortier GR, Leroy JG, Verloes A, David A
Am J Med Genet A 2009 Oct;149A(10):2220-5. doi: 10.1002/ajmg.a.32926. PMID: 19725128

Prognosis

Isidor B, Hamel A, Plasschaert F, Claus L, Mercier JM, Mortier GR, Leroy JG, Verloes A, David A
Am J Med Genet A 2009 Oct;149A(10):2220-5. doi: 10.1002/ajmg.a.32926. PMID: 19725128

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