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Desmosterolosis

MedGen UID:
400801
Concept ID:
C1865596
Disease or Syndrome
Synonym: DESMOSTEROLOSIS
SNOMED CT: Desmosterolosis (709490002)
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): DHCR24 (1p32.3)
 
Monarch Initiative: MONDO:0011217
OMIM®: 602398
Orphanet: ORPHA35107

Definition

Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells (summary by Waterham et al., 2001). [from OMIM]

Additional description

From MedlinePlus Genetics
Desmosterolosis is a condition that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms.

Children with desmosterolosis have delayed speech and motor skills (such as sitting and walking). Later in childhood, some affected individuals are able to walk with support; verbal communication is often limited to a few words or phrases. Common brain abnormalities in desmosterolosis include malformation of the tissue that connects the left and right halves of the brain (the corpus callosum) and loss of white matter, which consists of nerve fibers covered by a fatty substance called myelin.

People with desmosterolosis commonly have muscle stiffness (spasticity) and stiff, rigid joints (arthrogryposis) affecting their hands and feet. Other features seen in some affected individuals include short stature, abnormal head size (either larger or smaller than normal), a small lower jaw (micrognathia), an opening in the roof of the mouth (cleft palate), involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus), heart defects, and seizures.  https://medlineplus.gov/genetics/condition/desmosterolosis

Clinical features

From HPO
Gingival fibromatosis
MedGen UID:
42017
Concept ID:
C0016049
Finding
The presence of fibrosis of the gingiva.
Ambiguous genitalia, male
MedGen UID:
867446
Concept ID:
C4021823
Finding
Ambiguous genitalia in an individual with XY genetic gender.
Ambiguous genitalia, female
MedGen UID:
892752
Concept ID:
C4025891
Congenital Abnormality
Ambiguous genitalia in an individual with XX genetic gender.
Bilateral talipes equinovarus
MedGen UID:
332956
Concept ID:
C1837835
Congenital Abnormality
Bilateral clubfoot deformity.
Rhizomelia
MedGen UID:
357122
Concept ID:
C1866730
Congenital Abnormality
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Congenital total pulmonary venous return anomaly
MedGen UID:
1648157
Concept ID:
C4551903
Disease or Syndrome
Total anomalous pulmonary venous return (TAPVR) is a cyanotic form of congenital heart defect in which the pulmonary veins fail to enter the left atrium and instead drain into the right atrium or one of the venous tributaries (summary by Bleyl et al., 1994).
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
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).
Cupped ear
MedGen UID:
335186
Concept ID:
C1845447
Congenital Abnormality
Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
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.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Partial agenesis of the corpus callosum
MedGen UID:
98127
Concept ID:
C0431368
Congenital Abnormality
A partial failure of the development of the corpus callosum.
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.
Aplasia/Hypoplasia of the corpus callosum
MedGen UID:
354608
Concept ID:
C1861866
Finding
Absence or underdevelopment of the corpus callosum.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Finding
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Generalized osteosclerosis
MedGen UID:
375162
Concept ID:
C1843331
Finding
An abnormal increase of bone mineral density with generalized involvement of the skeleton.
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.
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.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Arthrogryposis multiplex congenita
MedGen UID:
1830310
Concept ID:
C5779613
Disease or Syndrome
Multiple congenital contractures in different body areas.
Abnormal circulating cholesterol concentration
MedGen UID:
871179
Concept ID:
C4025656
Finding
Any deviation from the normal concentration of cholesterol in the blood circulation.
Elevated circulating desmosterol concentration
MedGen UID:
1841991
Concept ID:
C5826783
Finding
Concentration of desmosterol in the blood circulation above the upper limit of normal.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
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).
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.
Hypoplastic nasal bridge
MedGen UID:
356319
Concept ID:
C1865597
Finding
Alveolar ridge overgrowth
MedGen UID:
400802
Concept ID:
C1865598
Finding
Increased width of the alveolar ridges.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Term Hierarchy

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

Professional guidelines

PubMed

Matza Porges S, Mor-Shaked H, Shaag A, Porat S, Daum H
Eur J Med Genet 2023 Oct;66(10):104825. Epub 2023 Sep 1 doi: 10.1016/j.ejmg.2023.104825. PMID: 37659595

Recent clinical studies

Etiology

Rohanizadegan M, Sacharow S
Eur J Med Genet 2018 Mar;61(3):152-156. Epub 2017 Nov 23 doi: 10.1016/j.ejmg.2017.11.009. PMID: 29175559Free PMC Article
Kanungo S, Soares N, He M, Steiner RD
Dev Disabil Res Rev 2013;17(3):197-210. doi: 10.1002/ddrr.1114. PMID: 23798009
Herman GE, Kratz L
Am J Med Genet C Semin Med Genet 2012 Nov 15;160C(4):301-21. Epub 2012 Oct 5 doi: 10.1002/ajmg.c.31340. PMID: 23042573
Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M
Am J Med Genet A 2011 Jul;155A(7):1597-604. Epub 2011 Jun 10 doi: 10.1002/ajmg.a.34040. PMID: 21671375Free PMC Article
Zolotushko J, Flusser H, Markus B, Shelef I, Langer Y, Heverin M, Björkhem I, Sivan S, Birk OS
Eur J Hum Genet 2011 Sep;19(9):942-6. Epub 2011 May 11 doi: 10.1038/ejhg.2011.74. PMID: 21559050Free PMC Article

Diagnosis

Hill C, Noureldein M, Karkhanis P, Kinning E, Vijay S, Gowda H
Am J Med Genet A 2023 Mar;191(3):859-863. Epub 2022 Dec 20 doi: 10.1002/ajmg.a.63083. PMID: 36538928
Rohanizadegan M, Sacharow S
Eur J Med Genet 2018 Mar;61(3):152-156. Epub 2017 Nov 23 doi: 10.1016/j.ejmg.2017.11.009. PMID: 29175559Free PMC Article
Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B
Eur J Med Genet 2014 Sep;57(9):536-42. Epub 2014 Jul 12 doi: 10.1016/j.ejmg.2014.07.001. PMID: 25019372
Jira P
Handb Clin Neurol 2013;113:1845-50. doi: 10.1016/B978-0-444-59565-2.00054-X. PMID: 23622407
Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M
Am J Med Genet A 2011 Jul;155A(7):1597-604. Epub 2011 Jun 10 doi: 10.1002/ajmg.a.34040. PMID: 21671375Free PMC Article

Therapy

Horvat S, McWhir J, Rozman D
Drug Metab Rev 2011 Feb;43(1):69-90. doi: 10.3109/03602532.2010.540580. PMID: 21247357

Prognosis

Rohanizadegan M, Sacharow S
Eur J Med Genet 2018 Mar;61(3):152-156. Epub 2017 Nov 23 doi: 10.1016/j.ejmg.2017.11.009. PMID: 29175559Free PMC Article
Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B
Eur J Med Genet 2014 Sep;57(9):536-42. Epub 2014 Jul 12 doi: 10.1016/j.ejmg.2014.07.001. PMID: 25019372
Kanungo S, Soares N, He M, Steiner RD
Dev Disabil Res Rev 2013;17(3):197-210. doi: 10.1002/ddrr.1114. PMID: 23798009
Valdez CM, Phelix CF, Smith MA, Perry G, Santamaria F
Mol Biosyst 2011 Jun;7(6):1891-901. Epub 2011 Mar 30 doi: 10.1039/c0mb00282h. PMID: 21451815Free PMC Article
Rossi M, Vajro P, Iorio R, Battagliese A, Brunetti-Pierri N, Corso G, Di Rocco M, Ferrari P, Rivasi F, Vecchione R, Andria G, Parenti G
Am J Med Genet A 2005 Jan 15;132A(2):144-51. doi: 10.1002/ajmg.a.30426. PMID: 15580635

Clinical prediction guides

Koczok K, Gurumurthy CB, Balogh I, Korade Z, Mirnics K
J Mol Histol 2019 Feb;50(1):63-73. Epub 2018 Dec 8 doi: 10.1007/s10735-018-9807-y. PMID: 30535733Free PMC Article
Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC
Pediatr Radiol 2015 Jul;45(7):965-76. Epub 2015 Feb 3 doi: 10.1007/s00247-014-3257-9. PMID: 25646736
Goyal S, Xiao Y, Porter NA, Xu L, Guengerich FP
J Lipid Res 2014 Sep;55(9):1933-43. Epub 2014 Jul 13 doi: 10.1194/jlr.M051508. PMID: 25017465Free PMC Article
Zolotushko J, Flusser H, Markus B, Shelef I, Langer Y, Heverin M, Björkhem I, Sivan S, Birk OS
Eur J Hum Genet 2011 Sep;19(9):942-6. Epub 2011 May 11 doi: 10.1038/ejhg.2011.74. PMID: 21559050Free PMC Article
Valdez CM, Phelix CF, Smith MA, Perry G, Santamaria F
Mol Biosyst 2011 Jun;7(6):1891-901. Epub 2011 Mar 30 doi: 10.1039/c0mb00282h. PMID: 21451815Free PMC Article

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