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Abnormal rib morphology

MedGen UID:
330763
Concept ID:
C1842083
Anatomical Abnormality; Finding
Synonym: Abnormality of the ribs
 
HPO: HP:0000772

Definition

An anomaly of the rib. [from HPO]

Conditions with this feature

CHARGE association
MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.
Microcephaly-micromelia syndrome
MedGen UID:
381553
Concept ID:
C1855079
Disease or Syndrome
Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs. Defects include radial ray anomalies, malformed digits, and clubfeet (summary by Evrony et al., 2017).
Klippel-Feil syndrome 1, autosomal dominant
MedGen UID:
396196
Concept ID:
C1861689
Disease or Syndrome
Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition.\n\nIn some cases, Klippel-Feil syndrome occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder.\n\nIn people with Klippel-Feil syndrome, the fused vertebrae can limit the range of movement of the neck and back as well as lead to chronic headaches and muscle pain in the neck and back that range in severity. People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. The shortened neck can cause a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Trauma to the spine, such as a fall or car accident, can aggravate problems in the fused area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome. Affected individuals may develop a painful joint disorder called osteoarthritis around the areas of fused bone or experience painful involuntary tensing of the neck muscles (cervical dystonia). In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; fusion of additional vertebrae below the neck may also occur.\n\nPeople with Klippel-Feil syndrome may have a wide variety of other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, eye abnormalities, an opening in the roof of the mouth (cleft palate), genitourinary problems such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb length discrepancy), which can result in misalignment of the hips or knees. Additionally, the shoulder blades may be underdeveloped so that they sit abnormally high on the back, a condition called Sprengel deformity. Rarely, structural brain abnormalities or a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect) can occur in people with Klippel-Feil syndrome.
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
MedGen UID:
355549
Concept ID:
C1865783
Disease or Syndrome
Alagille syndrome due to a JAG1 point mutation
MedGen UID:
365434
Concept ID:
C1956125
Disease or Syndrome
Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, developmental delays, splenomegaly, and vascular abnormalities may also occur.
COG1 congenital disorder of glycosylation
MedGen UID:
443957
Concept ID:
C2931011
Disease or Syndrome
An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.
Spondylocostal dysostosis 4, autosomal recessive
MedGen UID:
462292
Concept ID:
C3150942
Disease or Syndrome
Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates 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; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.
X-linked cerebral-cerebellar-coloboma syndrome syndrome
MedGen UID:
477118
Concept ID:
C3275487
Disease or Syndrome
A rare genetic syndrome with cerebellar malformation as a major feature. Characteristics included cerebellar vermis hypo or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, and ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.
VATER association
MedGen UID:
902479
Concept ID:
C4225671
Disease or Syndrome
VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by Quan and Smith (1972). Nearly all cases have been sporadic. VACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity (Khoury et al., 1983). Also see VATER/VACTERL association with hydrocephalus (VACTERL-H; 276950) and VACTERL with or without hydrocephalus (VACTERLX; 314390).
Mayer-Rokitansky-Küster-Hauser syndrome type 2
MedGen UID:
931237
Concept ID:
C4305568
Disease or Syndrome
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MÜllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.
Microcephaly, short stature, and limb abnormalities
MedGen UID:
1613834
Concept ID:
C4539873
Disease or Syndrome
MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017).
IFAP syndrome with or without BRESHECK syndrome
MedGen UID:
1746744
Concept ID:
C5399971
Disease or Syndrome
The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by Naiki et al., 2012). Genetic Heterogeneity of IFAP Syndrome IFAP syndrome-2 (IFAP2; 619016) is caused by heterozygous mutation in the SREBF1 gene (184756) on chromosome 17p11.

Recent clinical studies

Etiology

Frager L, Heaton D, Walker CM, Young K, Everist BM
Skeletal Radiol 2022 Jun;51(6):1173-1178. Epub 2021 Oct 18 doi: 10.1007/s00256-021-03933-2. PMID: 34664089
Su YH, Yang SM, Ko HJ
BMC Surg 2019 Aug 28;19(1):123. doi: 10.1186/s12893-019-0581-x. PMID: 31462238Free PMC Article
Durell J, Dagash H, Eradi B, Rajimwale A, Nour S, Patwardhan N
J Pediatr Surg 2017 Aug;52(8):1252-1254. Epub 2017 May 2 doi: 10.1016/j.jpedsurg.2017.04.019. PMID: 28545763
Yang M, Jiang H, Chen W, Li Q, Zhang Y, Li C, Pan B
J Craniofac Surg 2016 Jun;27(4):862-6. doi: 10.1097/SCS.0000000000002557. PMID: 27192635
Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns MA, Keighren M, Bahlo M, Bromhead CJ, Budd P, Aftimos S, Delatycki MB, Savarirayan R, Jackson IJ, Amor DJ
Am J Hum Genet 2011 Apr 8;88(4):508-15. doi: 10.1016/j.ajhg.2011.03.015. PMID: 21473986Free PMC Article

Diagnosis

Su YH, Yang SM, Ko HJ
BMC Surg 2019 Aug 28;19(1):123. doi: 10.1186/s12893-019-0581-x. PMID: 31462238Free PMC Article
Otomo N, Takeda K, Kawai S, Kou I, Guo L, Osawa M, Alev C, Kawakami N, Miyake N, Matsumoto N, Yasuhiko Y, Kotani T, Suzuki T, Uno K, Sudo H, Inami S, Taneichi H, Shigematsu H, Watanabe K, Yonezawa I, Sugawara R, Taniguchi Y, Minami S, Kaneko K, Nakamura M, Matsumoto M, Toguchida J, Watanabe K, Ikegawa S
J Med Genet 2019 Sep;56(9):622-628. Epub 2019 Apr 22 doi: 10.1136/jmedgenet-2018-105920. PMID: 31015262
Panigrahi I, Angurana SK, Varma H, Peyam Pandurangam S, Williams V, Thappa S, Kaur A, Khandelwal N
Clin Dysmorphol 2019 Jul;28(3):103-113. doi: 10.1097/MCD.0000000000000269. PMID: 30921094
Yang M, Jiang H, Chen W, Li Q, Zhang Y, Li C, Pan B
J Craniofac Surg 2016 Jun;27(4):862-6. doi: 10.1097/SCS.0000000000002557. PMID: 27192635
Watson TA, Arthurs OJ, Muthialu N, Calder AD
Skeletal Radiol 2014 Feb;43(2):263-6. Epub 2013 Oct 8 doi: 10.1007/s00256-013-1732-2. PMID: 24100706

Therapy

Obo T, Koriyama N, Tokito A, Ogiso K, Nishio Y
J Med Case Rep 2020 May 9;14(1):56. doi: 10.1186/s13256-020-02381-1. PMID: 32384911Free PMC Article
Mirjalili SA, McFadden SL, Buckenham T, Stringer MD
Clin Anat 2012 Oct;25(7):844-50. Epub 2012 Jun 28 doi: 10.1002/ca.22119. PMID: 22744875
Zhang LJ, Wang WP, Li WY, Hao CL, Li Z, Wu QL, Wu RP, Rong TH
Eur J Cardiothorac Surg 2011 Oct;40(4):939-47. Epub 2011 Feb 19 doi: 10.1016/j.ejcts.2010.12.058. PMID: 21334909
Yamaguchi R, Kohga H, Kurosaki M, Tamura M, Tanaka S, Tosaka M, Yoshimoto Y
Neurol Med Chir (Tokyo) 2008 Aug;48(8):355-8. doi: 10.2176/nmc.48.355. PMID: 18719326
Chen HH, Su WC, Guo HR, Lee BF, Su WR, Wu PS, Chiu NT
Nucl Med Commun 2003 Nov;24(11):1167-74. doi: 10.1097/00006231-200311000-00007. PMID: 14569171

Prognosis

Frager L, Heaton D, Walker CM, Young K, Everist BM
Skeletal Radiol 2022 Jun;51(6):1173-1178. Epub 2021 Oct 18 doi: 10.1007/s00256-021-03933-2. PMID: 34664089
Su YH, Yang SM, Ko HJ
BMC Surg 2019 Aug 28;19(1):123. doi: 10.1186/s12893-019-0581-x. PMID: 31462238Free PMC Article
Durell J, Dagash H, Eradi B, Rajimwale A, Nour S, Patwardhan N
J Pediatr Surg 2017 Aug;52(8):1252-1254. Epub 2017 May 2 doi: 10.1016/j.jpedsurg.2017.04.019. PMID: 28545763
Yang M, Jiang H, Chen W, Li Q, Zhang Y, Li C, Pan B
J Craniofac Surg 2016 Jun;27(4):862-6. doi: 10.1097/SCS.0000000000002557. PMID: 27192635
Loder RT, Huffman G, Toney E, Wurtz LD, Fallon R
Spine (Phila Pa 1976) 2007 Apr 15;32(8):904-10. doi: 10.1097/01.brs.0000259834.28893.97. PMID: 17426637

Clinical prediction guides

Su YH, Yang SM, Ko HJ
BMC Surg 2019 Aug 28;19(1):123. doi: 10.1186/s12893-019-0581-x. PMID: 31462238Free PMC Article
Durell J, Dagash H, Eradi B, Rajimwale A, Nour S, Patwardhan N
J Pediatr Surg 2017 Aug;52(8):1252-1254. Epub 2017 May 2 doi: 10.1016/j.jpedsurg.2017.04.019. PMID: 28545763
Yang M, Jiang H, Chen W, Li Q, Zhang Y, Li C, Pan B
J Craniofac Surg 2016 Jun;27(4):862-6. doi: 10.1097/SCS.0000000000002557. PMID: 27192635
Mirjalili SA, McFadden SL, Buckenham T, Stringer MD
Clin Anat 2012 Oct;25(7):844-50. Epub 2012 Jun 28 doi: 10.1002/ca.22119. PMID: 22744875
Loder RT, Huffman G, Toney E, Wurtz LD, Fallon R
Spine (Phila Pa 1976) 2007 Apr 15;32(8):904-10. doi: 10.1097/01.brs.0000259834.28893.97. PMID: 17426637

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