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Spondylocostal dysostosis 4, autosomal recessive(SCDO4)

MedGen UID:
462292
Concept ID:
C3150942
Disease or Syndrome
Synonyms: HES7-Related Spondylocostal Dysostosis, Autosomal Recessive; SCDO4
 
Gene (location): HES7 (17p13.1)
 
Monarch Initiative: MONDO:0013366
OMIM®: 613686

Disease characteristics

Excerpted from the GeneReview: Spondylocostal Dysostosis, Autosomal Recessive
Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs, is characterized clinically by a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals – rarely, more significant scoliosis occurs. Respiratory function in neonates with severe disease may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development. In severely affected individuals with restricted pulmonary capacity, there is a possibility that pulmonary hypertension may eventually impact cardiac function. Males with SCDO appear to be at increased risk for inguinal hernia. [from GeneReviews]
Authors:
Peter D Turnpenny  |  Melissa Sloman  |  Sally Dunwoodie   view full author information

Additional description

From MedlinePlus Genetics
Although breathing problems can be fatal early in life, many affected individuals live into adulthood.

Some people with spondylocostal dysostosis also have a type of birth defect known as a neural tube defect. Neural tube defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Examples of neural tube defects that occur in people with spondylocostal dysostosis include a spinal cord abnormality known as spina bifida and a brain abnormality called a Chiari malformation.

The spine and rib abnormalities, which are present from birth, cause other signs and symptoms of spondylocostal dysostosis. Infants with this condition have small chests that cannot expand adequately, often leading to life-threatening breathing problems. As the lungs expand in the narrow chest, the muscle that separates the abdomen from the chest cavity (the diaphragm) is forced down and the abdomen is pushed out. The increased pressure in the abdomen can cause a soft out-pouching around the lower abdomen (inguinal hernia), particularly in males with spondylocostal dysostosis.

Spondylocostal dysostosis has often been grouped with a similar condition called spondylothoracic dysostosis, and both are sometimes called Jarcho-Levin syndrome; however, they are now considered distinct conditions.

Spondylocostal dysostosis is a group of conditions characterized by abnormal development of bones in the spine and ribs. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). Many people with this condition have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae. In addition to spinal abnormalities, some of the rib bones may be fused together or missing. Affected individuals have short, rigid necks and short torsos because of the bone malformations. As a result, people with spondylocostal dysostosis have short bodies but normal-length arms and legs, called short-trunk dwarfism.  https://medlineplus.gov/genetics/condition/spondylocostal-dysostosis

Clinical features

From HPO
Neurogenic bladder
MedGen UID:
595
Concept ID:
C0005697
Disease or Syndrome
A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.
Dextrocardia
MedGen UID:
4255
Concept ID:
C0011813
Congenital Abnormality
The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
Vertebral artery hypoplasia
MedGen UID:
833617
Concept ID:
C1868737
Disease or Syndrome
Underdevelopment of the vertebral artery.
Unilateral vertebral artery hypoplasia
MedGen UID:
480720
Concept ID:
C3279090
Finding
Underdevelopment of the vertebral artery on one side.
Situs inversus
MedGen UID:
1642262
Concept ID:
C4551493
Congenital Abnormality
A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs.
Aplasia of posterior communicating artery
MedGen UID:
1841851
Concept ID:
C5826484
Congenital Abnormality
A developmental anomnaly characterized by the lack of development of the posterior communicating artery.
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).
Anal stenosis
MedGen UID:
82644
Concept ID:
C0262374
Anatomical Abnormality
Abnormal narrowing of the anal opening.
Ectopic anus
MedGen UID:
75606
Concept ID:
C0266231
Congenital Abnormality
Abnormal displacement or malposition of the anus.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Myelomeningocele
MedGen UID:
7538
Concept ID:
C0025312
Congenital Abnormality
Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.
Spina bifida occulta
MedGen UID:
36380
Concept ID:
C0080174
Congenital Abnormality
The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
Chiari malformation type II
MedGen UID:
108222
Concept ID:
C0555206
Congenital Abnormality
Chiari malformation type II (CM2), also known as the Arnold-Chiari malformation, consists of elongation and descent of the inferior cerebellar vermis, cerebellar hemispheres, pons, medulla, and fourth ventricle through the foramen magnum into the spinal canal. CM2 is uniquely associated with myelomeningocele (open spina bifida; see 182940) and is found only in this population (Stevenson, 2004). It is believed to be a disorder of neuroectodermal origin (Schijman, 2004). For a general phenotypic description of the different forms of Chiari malformations, see Chiari malformation type I (CM1; 118420).
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
Absence of one half of the vertebral body.
Rib fusion
MedGen UID:
78570
Concept ID:
C0265695
Congenital Abnormality
Complete or partial merging of adjacent ribs.
Short thorax
MedGen UID:
140876
Concept ID:
C0426789
Finding
Reduced inferior to superior extent of the thorax.
Missing ribs
MedGen UID:
98093
Concept ID:
C0426816
Finding
A developmental anomaly with absence of one or more ribs.
Vertebral segmentation defect
MedGen UID:
96577
Concept ID:
C0432163
Congenital Abnormality
An abnormality related to a defect of vertebral separation during development.
Block vertebrae
MedGen UID:
375498
Concept ID:
C1844753
Congenital Abnormality
Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).
Abnormal odontoid process morphology
MedGen UID:
351218
Concept ID:
C1864794
Anatomical Abnormality
Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis.
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.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Vertebral fusion
MedGen UID:
480139
Concept ID:
C3278509
Anatomical Abnormality
A developmental defect leading to the union of two adjacent vertebrae.
Reduced forced vital capacity
MedGen UID:
337630
Concept ID:
C1846678
Finding
An abnormal reduction in the amount of air a person can expel following maximal inspiration.
Restrictive ventilatory defect
MedGen UID:
478856
Concept ID:
C3277226
Finding
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
Reduced forced expiratory volume in one second
MedGen UID:
1687063
Concept ID:
C5139283
Finding
An abnormal reduction in the amount of air a person can forcefully expel in one second.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Broad neck
MedGen UID:
344099
Concept ID:
C1853638
Finding
Increased side-to-side width of the neck.

Recent clinical studies

Etiology

Dane B, Dane C, Aksoy F, Cetin A, Yayla M
Fetal Diagn Ther 2007;22(6):416-9. Epub 2007 Jul 24 doi: 10.1159/000106345. PMID: 17652927
Cornier AS, Ramírez N, Arroyo S, Acevedo J, García L, Carlo S, Korf B
Am J Med Genet A 2004 Jul 15;128A(2):120-6. doi: 10.1002/ajmg.a.30011. PMID: 15214000
Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie SL, Turnpenny PD
Am J Hum Genet 2004 Jun;74(6):1249-54. Epub 2004 Apr 30 doi: 10.1086/421053. PMID: 15122512Free PMC Article
Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S
J Med Genet 2003 May;40(5):333-9. doi: 10.1136/jmg.40.5.333. PMID: 12746394Free PMC Article
Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD
Nat Genet 2000 Apr;24(4):438-41. doi: 10.1038/74307. PMID: 10742114

Diagnosis

Willet CE, Makara M, Reppas G, Tsoukalas G, Malik R, Haase B, Wade CM
PLoS One 2015;10(2):e0117055. Epub 2015 Feb 6 doi: 10.1371/journal.pone.0117055. PMID: 25659135Free PMC Article
Dane B, Dane C, Aksoy F, Cetin A, Yayla M
Fetal Diagn Ther 2007;22(6):416-9. Epub 2007 Jul 24 doi: 10.1159/000106345. PMID: 17652927
Cornier AS, Ramírez N, Arroyo S, Acevedo J, García L, Carlo S, Korf B
Am J Med Genet A 2004 Jul 15;128A(2):120-6. doi: 10.1002/ajmg.a.30011. PMID: 15214000
Romeo MG, Distefano G, Di Bella D, Mangiagli A, Caltabiano L, Roccaro S, Mollica F
Clin Genet 1991 Apr;39(4):253-9. doi: 10.1111/j.1399-0004.1991.tb03023.x. PMID: 2070546

Therapy

Willet CE, Makara M, Reppas G, Tsoukalas G, Malik R, Haase B, Wade CM
PLoS One 2015;10(2):e0117055. Epub 2015 Feb 6 doi: 10.1371/journal.pone.0117055. PMID: 25659135Free PMC Article

Prognosis

Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S
J Med Genet 2003 May;40(5):333-9. doi: 10.1136/jmg.40.5.333. PMID: 12746394Free PMC Article
Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD
Nat Genet 2000 Apr;24(4):438-41. doi: 10.1038/74307. PMID: 10742114
Solomon L, Jimenez RB, Reiner L
Arch Pathol Lab Med 1978 Apr;102(4):201-5. PMID: 350188

Clinical prediction guides

Willet CE, Makara M, Reppas G, Tsoukalas G, Malik R, Haase B, Wade CM
PLoS One 2015;10(2):e0117055. Epub 2015 Feb 6 doi: 10.1371/journal.pone.0117055. PMID: 25659135Free PMC Article
Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S
J Med Genet 2003 May;40(5):333-9. doi: 10.1136/jmg.40.5.333. PMID: 12746394Free PMC Article
Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD
Nat Genet 2000 Apr;24(4):438-41. doi: 10.1038/74307. PMID: 10742114
Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S
Am J Hum Genet 1999 Jul;65(1):175-82. doi: 10.1086/302464. PMID: 10364530Free PMC Article
Mortier GR, Lachman RS, Bocian M, Rimoin DL
Am J Med Genet 1996 Feb 2;61(4):310-9. doi: 10.1002/(SICI)1096-8628(19960202)61:4<310::AID-AJMG3>3.0.CO;2-Y. PMID: 8834041

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