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Mental retardation, autosomal dominant 29(MRD29)

MedGen UID:
863578
Concept ID:
C4015141
Disease or Syndrome
Synonyms: MRD29
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, 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.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): SETBP1 (18q12.3)
OMIM®: 616078

Definition

SETBP1 disorder is a condition that involves speech and language problems, intellectual disability, and distinctive facial features.In people with SETBP1 disorder, problems with expressive language skills (vocabulary and the production of speech) are generally more severely affected than receptive language skills (the ability to understand speech). Speech development is limited to a few words or no speech. Affected individuals often communicate using gestures or by mimicking the expressions of others.Individuals with SETBP1 disorder have intellectual disability that can range from mild to moderate. They may also have behavioral problems, such as attention-deficit/hyperactivity disorder (ADHD) or autistic behaviors that affect communication and social interaction. Affected individuals may have weak muscle tone (hypotonia); delayed development of motor skills, such as sitting, standing, and walking; or recurrent seizures (epilepsy).Distinctive facial features in people with SETBP1 disorder can include a long face, a high forehead, eyebrows that grow together in the middle (synophrys), short eye openings (short palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), droopy eyelids (ptosis), puffiness of the skin around the eyes (periorbital fullness), small nostrils, a high nasal bridge, a broad tip of the nose, a thin upper lip, a high arch in the roof of the mouth (high-arched palate), and a small chin.
[from GHR]

Clinical features

From HPO
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Attention deficit hyperactivity disorder
MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.In people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.Hyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.Impulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.More than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.In most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Dental crowding
MedGen UID:
11850
Concept ID:
C0040433
Finding
Overlapping teeth within an alveolar ridge.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Synophrys
MedGen UID:
98132
Concept ID:
C0431447
Congenital Abnormality
Meeting of the medial eyebrows in the midline.
Narrow palate
MedGen UID:
278045
Concept ID:
C1398312
Finding
Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Pointed chin
MedGen UID:
336193
Concept ID:
C1844505
Finding
A marked tapering of the lower face to the chin.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Synophrys
MedGen UID:
98132
Concept ID:
C0431447
Congenital Abnormality
Meeting of the medial eyebrows in the midline.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.
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 (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Recent clinical studies

Etiology

Carmona-Iragui M, Balasa M, Benejam B, Alcolea D, Fernández S, Videla L, Sala I, Sánchez-Saudinós MB, Morenas-Rodriguez E, Ribosa-Nogué R, Illán-Gala I, Gonzalez-Ortiz S, Clarimón J, Schmitt F, Powell DK, Bosch B, Lladó A, Rafii MS, Head E, Molinuevo JL, Blesa R, Videla S, Lleó A, Sánchez-Valle R, Fortea J
Alzheimers Dement 2017 Nov;13(11):1251-1260. Epub 2017 Apr 29 doi: 10.1016/j.jalz.2017.03.007. PMID: 28463681Free PMC Article
Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, Chehadeh SE, Mosca-Boidron AL, Thevenon J, Edery P, Alex-Cordier MP, Till M, Lyonnet S, Cormier-Daire V, Amiel J, Philippe A, Romana S, Malan V, Afenjar A, Marlin S, Chantot-Bastaraud S, Bitoun P, Heron B, Piparas E, Morice-Picard F, Moutton S, Chassaing N, Vigouroux-Castera A, Lespinasse J, Manouvrier-Hanu S, Boute-Benejean O, Vincent-Delorme C, Petit F, Meur NL, Marti-Dramard M, Guerrot AM, Goldenberg A, Redon S, Ferrec C, Odent S, Caignec CL, Mercier S, Gilbert-Dussardier B, Toutain A, Arpin S, Blesson S, Mortemousque I, Schaefer E, Martin D, Philip N, Sigaudy S, Busa T, Missirian C, Giuliano F, Benailly HK, Kien PK, Leheup B, Benneteau C, Lambert L, Caumes R, Kuentz P, François I, Heron D, Keren B, Cretin E, Callier P, Julia S, Faivre L
Clin Genet 2016 May;89(5):630-5. Epub 2016 Jan 4 doi: 10.1111/cge.12696. PMID: 26582393
Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, Kitanaka S
J Bone Miner Res 2014 Apr;29(4):992-8. doi: 10.1002/jbmr.2091. PMID: 23996431
Liang JT, Huo LR, Bao YH, Wang ZY, Ling F
Neurosci Bull 2013 Dec;29(6):708-14. Epub 2013 Nov 11 doi: 10.1007/s12264-013-1388-x. PMID: 24218100Free PMC Article
Lopes AM, Aston KI, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF
PLoS Genet 2013 Mar;9(3):e1003349. Epub 2013 Mar 21 doi: 10.1371/journal.pgen.1003349. PMID: 23555275Free PMC Article

Diagnosis

Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, Chehadeh SE, Mosca-Boidron AL, Thevenon J, Edery P, Alex-Cordier MP, Till M, Lyonnet S, Cormier-Daire V, Amiel J, Philippe A, Romana S, Malan V, Afenjar A, Marlin S, Chantot-Bastaraud S, Bitoun P, Heron B, Piparas E, Morice-Picard F, Moutton S, Chassaing N, Vigouroux-Castera A, Lespinasse J, Manouvrier-Hanu S, Boute-Benejean O, Vincent-Delorme C, Petit F, Meur NL, Marti-Dramard M, Guerrot AM, Goldenberg A, Redon S, Ferrec C, Odent S, Caignec CL, Mercier S, Gilbert-Dussardier B, Toutain A, Arpin S, Blesson S, Mortemousque I, Schaefer E, Martin D, Philip N, Sigaudy S, Busa T, Missirian C, Giuliano F, Benailly HK, Kien PK, Leheup B, Benneteau C, Lambert L, Caumes R, Kuentz P, François I, Heron D, Keren B, Cretin E, Callier P, Julia S, Faivre L
Clin Genet 2016 May;89(5):630-5. Epub 2016 Jan 4 doi: 10.1111/cge.12696. PMID: 26582393
Johannesen EJ, Williams T, Miller DC, Tuller E
Int J Gynecol Pathol 2015 Mar;34(2):132-5. doi: 10.1097/PGP.0000000000000125. PMID: 25675181
Steinlein OK, Hoda JC, Bertrand S, Bertrand D
Seizure 2012 Mar;21(2):118-23. Epub 2011 Oct 28 doi: 10.1016/j.seizure.2011.10.003. PMID: 22036597
Ferrentino R, Bassi MT, Chitayat D, Tabolacci E, Meroni G
Hum Mutat 2007 Feb;28(2):206-7. doi: 10.1002/humu.9480. PMID: 17221865
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Therapy

Matevosyan NR
Arch Gynecol Obstet 2016 Jan;293(1):87-99. Epub 2015 Jun 11 doi: 10.1007/s00404-015-3770-6. PMID: 26063342
Jentarra GM, Rice SG, Olfers S, Saffen D, Narayanan V
BMC Med Genet 2011 Feb 23;12:29. doi: 10.1186/1471-2350-12-29. PMID: 21345208Free PMC Article
Schwartz RA, Fernández G, Kotulska K, Jóźwiak S
J Am Acad Dermatol 2007 Aug;57(2):189-202. doi: 10.1016/j.jaad.2007.05.004. PMID: 17637444

Prognosis

Steinlein OK, Hoda JC, Bertrand S, Bertrand D
Seizure 2012 Mar;21(2):118-23. Epub 2011 Oct 28 doi: 10.1016/j.seizure.2011.10.003. PMID: 22036597
Jentarra GM, Rice SG, Olfers S, Saffen D, Narayanan V
BMC Med Genet 2011 Feb 23;12:29. doi: 10.1186/1471-2350-12-29. PMID: 21345208Free PMC Article
Steinlein OK, Conrad C, Weidner B
Epilepsy Res 2007 Mar;73(3):245-9. Epub 2006 Nov 28 doi: 10.1016/j.eplepsyres.2006.10.010. PMID: 17129708
Beke A, Papp Z
J Perinat Med 2001;29(3):230-4. doi: 10.1515/JPM.2001.032. PMID: 11447927

Clinical prediction guides

Steinlein OK, Hoda JC, Bertrand S, Bertrand D
Seizure 2012 Mar;21(2):118-23. Epub 2011 Oct 28 doi: 10.1016/j.seizure.2011.10.003. PMID: 22036597
Jentarra GM, Rice SG, Olfers S, Saffen D, Narayanan V
BMC Med Genet 2011 Feb 23;12:29. doi: 10.1186/1471-2350-12-29. PMID: 21345208Free PMC Article
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Hum Mol Genet 1993 Nov;2(11):1941-3. doi: 10.1093/hmg/2.11.1941. PMID: 8129825
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J Med Genet 1992 Apr;29(4):262-5. doi: 10.1136/jmg.29.4.262. PMID: 1583649Free PMC Article
Wilson GN, Oliver WJ
J Med Genet 1988 Mar;25(3):157-63. doi: 10.1136/jmg.25.3.157. PMID: 3351901Free PMC Article

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