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Acromesomelic dysplasia 4(AMD4)

MedGen UID:
1794238
Concept ID:
C5562028
Disease or Syndrome
Synonyms: ACROMESOMELIC DYSPLASIA 4; AMD4
 
Gene (location): PRKG2 (4q21.21)
 
Monarch Initiative: MONDO:0030553
OMIM®: 619636

Definition

Acromesomelic dysplasia-4 (AMD4) is characterized by disproportionate short stature due to mesomelic shortening of the limbs. Radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age (Diaz-Gonzalez et al., 2022). For a discussion of genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875). [from OMIM]

Clinical features

From HPO
Genu varum
MedGen UID:
154257
Concept ID:
C0544755
Finding
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
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.
Genu valgum
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short toe
MedGen UID:
322858
Concept ID:
C1836195
Finding
A toe that appears disproportionately short compared to the foot.
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.
Sandal gap
MedGen UID:
374376
Concept ID:
C1840069
Finding
A widely spaced gap between the first toe (the great toe) and the second toe.
Short finger
MedGen UID:
334977
Concept ID:
C1844548
Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Broad finger
MedGen UID:
375540
Concept ID:
C1844906
Finding
Increased width of a non-thumb digit of the hand.
Broad phalanx
MedGen UID:
340809
Concept ID:
C1855185
Finding
Increased side-to-side width of one or more phalanges of the fingers or toes.
Radial bowing
MedGen UID:
347136
Concept ID:
C1859399
Anatomical Abnormality
A bending or abnormal curvature of the radius.
Broad toe
MedGen UID:
351283
Concept ID:
C1865038
Finding
Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.
Ulnar bowing
MedGen UID:
356099
Concept ID:
C1865847
Finding
Bending of the diaphysis (shaft) of the ulna.
Rhizomelia
MedGen UID:
357122
Concept ID:
C1866730
Congenital Abnormality
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Third degree atrioventricular block
MedGen UID:
56230
Concept ID:
C0151517
Disease or Syndrome
Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Disproportionate short stature
MedGen UID:
168053
Concept ID:
C0878659
Finding
A kind of short stature in which different regions of the body are shortened to differing extents.
Chronic constipation
MedGen UID:
98325
Concept ID:
C0401149
Sign or Symptom
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
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.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
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.
Accelerated skeletal maturation
MedGen UID:
154262
Concept ID:
C0545053
Finding
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Metaphyseal irregularity
MedGen UID:
325478
Concept ID:
C1838662
Finding
Irregularity of the normally smooth surface of the metaphyses.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Prominent sternum
MedGen UID:
337578
Concept ID:
C1846433
Finding
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Flared metaphysis
MedGen UID:
337976
Concept ID:
C1850135
Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Beaking of vertebral bodies
MedGen UID:
341588
Concept ID:
C1856599
Finding
Anterior tongue-like protrusions of the vertebral bodies.
Enlargement of the costochondral junction
MedGen UID:
346535
Concept ID:
C1857180
Finding
Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.
Thoracic scoliosis
MedGen UID:
387910
Concept ID:
C1857790
Anatomical Abnormality
Thoracic platyspondyly
MedGen UID:
400049
Concept ID:
C1862428
Finding
A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine.
Prominent deltoid tuberosities
MedGen UID:
388940
Concept ID:
C2674600
Finding
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Triangular face
MedGen UID:
324383
Concept ID:
C1835884
Finding
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Pointed chin
MedGen UID:
336193
Concept ID:
C1844505
Finding
A marked tapering of the lower face to the chin.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Thick eyebrow
MedGen UID:
377914
Concept ID:
C1853487
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Hypertrichosis
MedGen UID:
43787
Concept ID:
C0020555
Disease or Syndrome
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Synophrys
MedGen UID:
98132
Concept ID:
C0431447
Congenital Abnormality
Meeting of the medial eyebrows in the midline.
Generalized hirsutism
MedGen UID:
336538
Concept ID:
C1849211
Finding
Abnormally increased hair growth over much of the entire body.

Professional guidelines

PubMed

Nayır Büyükşahin H, Emiralioglu N, Simşek Kiper PÖ, Sunman B, Güzelkaş I, Alboğa D, Akgül Erdal M, Boduroglu K, Utine GE, Yalcın E, Doğru D, Kiper N, Ozcelik U
J Sleep Res 2023 Oct;32(5):e13914. Epub 2023 May 1 doi: 10.1111/jsr.13914. PMID: 37128177

Recent clinical studies

Etiology

Nayır Büyükşahin H, Emiralioglu N, Simşek Kiper PÖ, Sunman B, Güzelkaş I, Alboğa D, Akgül Erdal M, Boduroglu K, Utine GE, Yalcın E, Doğru D, Kiper N, Ozcelik U
J Sleep Res 2023 Oct;32(5):e13914. Epub 2023 May 1 doi: 10.1111/jsr.13914. PMID: 37128177
Zhu J, Meng R, Zhao H, Cai L, Wen X, Zeng W, Luo Y, Qi H
DNA Cell Biol 2022 Nov;41(11):996-1006. Epub 2022 Nov 2 doi: 10.1089/dna.2022.0453. PMID: 36322898
Walczak-Sztulpa J, Wawrocka A, Sikora W, Pawlak M, Bukowska-Olech E, Kopaczewski B, Urzykowska A, Arts HH, Gotz-Więckowska A, Grenda R, Latos-Bieleńska A, Glazar R
Am J Med Genet A 2022 Oct;188(10):3071-3077. Epub 2022 Jul 25 doi: 10.1002/ajmg.a.62903. PMID: 35875935
Olney RC, Prickett TC, Espiner EA, Mackenzie WG, Duker AL, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB
J Clin Endocrinol Metab 2015 Feb;100(2):E355-9. Epub 2014 Nov 11 doi: 10.1210/jc.2014-2814. PMID: 25387261
Ianakiev P, Kilpatrick MW, Daly MJ, Zolindaki A, Bagley D, Beighton G, Beighton P, Tsipouras P
Clin Genet 2000 Apr;57(4):278-83. doi: 10.1034/j.1399-0004.2000.570406.x. PMID: 10845568

Diagnosis

Nayır Büyükşahin H, Emiralioglu N, Simşek Kiper PÖ, Sunman B, Güzelkaş I, Alboğa D, Akgül Erdal M, Boduroglu K, Utine GE, Yalcın E, Doğru D, Kiper N, Ozcelik U
J Sleep Res 2023 Oct;32(5):e13914. Epub 2023 May 1 doi: 10.1111/jsr.13914. PMID: 37128177
Zhu J, Meng R, Zhao H, Cai L, Wen X, Zeng W, Luo Y, Qi H
DNA Cell Biol 2022 Nov;41(11):996-1006. Epub 2022 Nov 2 doi: 10.1089/dna.2022.0453. PMID: 36322898
Walczak-Sztulpa J, Wawrocka A, Sikora W, Pawlak M, Bukowska-Olech E, Kopaczewski B, Urzykowska A, Arts HH, Gotz-Więckowska A, Grenda R, Latos-Bieleńska A, Glazar R
Am J Med Genet A 2022 Oct;188(10):3071-3077. Epub 2022 Jul 25 doi: 10.1002/ajmg.a.62903. PMID: 35875935
Martinez-Garcia M, Garcia-Canto E, Fenollar-Cortes M, Aytes AP, Trujillo-Tiebas MJ
J Bone Miner Metab 2016 Sep;34(5):599-603. Epub 2015 Aug 15 doi: 10.1007/s00774-015-0693-z. PMID: 26275437
Vasques GA, Arnhold IJ, Jorge AA
Horm Res Paediatr 2014;82(4):222-9. Epub 2014 Sep 3 doi: 10.1159/000365049. PMID: 25196103

Therapy

Arya VB, Raj M, Younes M, Chapman S, Irving M, Kapoor RR, Buchanan CR
Horm Res Paediatr 2020;93(5):335-342. Epub 2020 Nov 25 doi: 10.1159/000511874. PMID: 33238275

Prognosis

Nayır Büyükşahin H, Emiralioglu N, Simşek Kiper PÖ, Sunman B, Güzelkaş I, Alboğa D, Akgül Erdal M, Boduroglu K, Utine GE, Yalcın E, Doğru D, Kiper N, Ozcelik U
J Sleep Res 2023 Oct;32(5):e13914. Epub 2023 May 1 doi: 10.1111/jsr.13914. PMID: 37128177
Martinez-Garcia M, Garcia-Canto E, Fenollar-Cortes M, Aytes AP, Trujillo-Tiebas MJ
J Bone Miner Metab 2016 Sep;34(5):599-603. Epub 2015 Aug 15 doi: 10.1007/s00774-015-0693-z. PMID: 26275437

Clinical prediction guides

Nayır Büyükşahin H, Emiralioglu N, Simşek Kiper PÖ, Sunman B, Güzelkaş I, Alboğa D, Akgül Erdal M, Boduroglu K, Utine GE, Yalcın E, Doğru D, Kiper N, Ozcelik U
J Sleep Res 2023 Oct;32(5):e13914. Epub 2023 May 1 doi: 10.1111/jsr.13914. PMID: 37128177
Martinez-Garcia M, Garcia-Canto E, Fenollar-Cortes M, Aytes AP, Trujillo-Tiebas MJ
J Bone Miner Metab 2016 Sep;34(5):599-603. Epub 2015 Aug 15 doi: 10.1007/s00774-015-0693-z. PMID: 26275437
Wang SR, Jacobsen CM, Carmichael H, Edmund AB, Robinson JW, Olney RC, Miller TC, Moon JE, Mericq V, Potter LR, Warman ML, Hirschhorn JN, Dauber A
Hum Mutat 2015 Apr;36(4):474-81. Epub 2015 Mar 16 doi: 10.1002/humu.22773. PMID: 25703509Free PMC Article
Olney RC, Prickett TC, Espiner EA, Mackenzie WG, Duker AL, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB
J Clin Endocrinol Metab 2015 Feb;100(2):E355-9. Epub 2014 Nov 11 doi: 10.1210/jc.2014-2814. PMID: 25387261
Ianakiev P, Kilpatrick MW, Daly MJ, Zolindaki A, Bagley D, Beighton G, Beighton P, Tsipouras P
Clin Genet 2000 Apr;57(4):278-83. doi: 10.1034/j.1399-0004.2000.570406.x. PMID: 10845568

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