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Carpenter syndrome 2(CRPT2)

MedGen UID:
767161
Concept ID:
C3554247
Disease or Syndrome
Synonyms: CRPT2
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene (location): MEGF8 (19q13.2)
OMIM®: 614976

Definition

Carpenter syndrome-2 is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease (summary by Twigg et al., 2012). For a discussion of genetic heterogeneity of Carpenter syndrome, see 201000. [from OMIM]

Additional description

From GHR
Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly). In severely affected individuals, the abnormal fusion of the skull bones results in a deformity called a cloverleaf skull. Craniosynostosis can cause differences between the two sides of the head and face (craniofacial asymmetry). Early fusion of the skull bones can affect the development of the brain and lead to increased pressure within the skull (intracranial pressure). Premature fusion of the skull bones can cause several characteristic facial features in people with Carpenter syndrome. Distinctive facial features may include a flat nasal bridge, outside corners of the eyes that point downward (down-slanting palpebral fissures), low-set and abnormally shaped ears, underdeveloped upper and lower jaws, and abnormal eye shape. Some affected individuals also have dental abnormalities including small primary (baby) teeth. Vision problems also frequently occur. Abnormalities of the fingers and toes include fusion of the skin between two or more fingers or toes (cutaneous syndactyly), unusually short fingers or toes (brachydactyly), or extra fingers or toes (polydactyly). In Carpenter syndrome, cutaneous syndactyly is most common between the third (middle) and fourth (ring) fingers, and polydactyly frequently occurs next to the big or second toe or the fifth (pinky) finger. People with Carpenter syndrome often have intellectual disability, which can range from mild to profound. However, some individuals with this condition have normal intelligence. The cause of intellectual disability is unknown, as the severity of craniosynostosis does not appear to be related to the severity of intellectual disability. Other features of Carpenter syndrome include obesity that begins in childhood, a soft out-pouching around the belly-button (umbilical hernia), hearing loss, and heart defects. Additional skeletal abnormalities such as deformed hips, a rounded upper back that also curves to the side (kyphoscoliosis), and knees that are angled inward (genu valgum) frequently occur. Nearly all affected males have genital abnormalities, most frequently undescended testes (cryptorchidism). A few people with Carpenter syndrome have organs or tissues within their chest and abdomen that are in mirror-image reversed positions. This abnormal placement may affect several internal organs (situs inversus); just the heart (dextrocardia), placing the heart on the right side of the body instead of on the left; or only the major (great) arteries of the heart, altering blood flow. The signs and symptoms of this disorder vary considerably, even within the same family. The life expectancy for individuals with Carpenter syndrome is shortened but extremely variable. The signs and symptoms of Carpenter syndrome are similar to another genetic condition called Greig cephalopolysyndactyly syndrome. The overlapping features, which include craniosynostosis, polydactyly, and heart abnormalities, can cause these two conditions to be misdiagnosed; genetic testing is often required for an accurate diagnosis.  http://ghr.nlm.nih.gov/condition/carpenter-syndrome

Clinical features

Obesity
MedGen UID:
368429
Concept ID:
C1963185
Finding
Shawl scrotum
MedGen UID:
388088
Concept ID:
C1858539
Finding
Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Micropenis
MedGen UID:
504321
Concept ID:
CN000054
Finding
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Epicanthus
MedGen UID:
724513
Concept ID:
C1303004
Finding
Retrognathia
MedGen UID:
376696
Concept ID:
C1850067
Finding
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Finding
Anteverted nares
MedGen UID:
339940
Concept ID:
C1853244
Finding
Narrow palate
MedGen UID:
504384
Concept ID:
CN000184
Finding
Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
High palate
MedGen UID:
504397
Concept ID:
CN000211
Finding
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).
Trigonocephaly
MedGen UID:
504405
Concept ID:
CN000235
Finding
Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.
Brachycephaly
MedGen UID:
504407
Concept ID:
CN000240
Finding
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.
Oxycephaly
MedGen UID:
446343
Concept ID:
CN000250
Finding
Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Wide nasal bridge
MedGen UID:
504442
Concept ID:
CN000404
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Webbed neck
MedGen UID:
504452
Concept ID:
CN000434
Finding
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
Sparse eyebrow
MedGen UID:
500888
Concept ID:
CN000501
Finding
Decreased density/number and/or decreased diameter of eyebrow hairs.
Upslanted palpebral fissure
MedGen UID:
504509
Concept ID:
CN000546
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Highly arched eyebrow
MedGen UID:
500931
Concept ID:
CN002318
Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Depressed nasal bridge
MedGen UID:
446656
Concept ID:
CN004681
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Low-set ears
MedGen UID:
504425
Concept ID:
CN000345
Finding
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.
Protruding ear
MedGen UID:
504438
Concept ID:
CN000384
Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Hypoplastic nipples
MedGen UID:
381226
Concept ID:
C1853630
Finding
Supernumerary nipple
MedGen UID:
505270
Concept ID:
CN002323
Finding
Presence of more than two nipples.
Wide intermamillary distance
MedGen UID:
428638
Concept ID:
CN005758
Finding
A larger than usual distance between the left and right nipple.
Coxa vara
MedGen UID:
116081
Concept ID:
C0239138
Finding
Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Retrognathia
MedGen UID:
376696
Concept ID:
C1850067
Finding
Trigonocephaly
MedGen UID:
504405
Concept ID:
CN000235
Finding
Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.
Brachycephaly
MedGen UID:
504407
Concept ID:
CN000240
Finding
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.
Oxycephaly
MedGen UID:
446343
Concept ID:
CN000250
Finding
Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.
Pectus excavatum
MedGen UID:
504591
Concept ID:
CN000721
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Pectus carinatum
MedGen UID:
504592
Concept ID:
CN000722
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Aplasia of the middle phalanx of the hand
MedGen UID:
429527
Concept ID:
CN009071
Finding
Absence of one or more middle phalanx of a finger.
Cutaneous finger syndactyly
MedGen UID:
429584
Concept ID:
CN009385
Finding
A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.
Preaxial polydactyly
MedGen UID:
506459
Concept ID:
CN117154
Finding
A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.
Postaxial polydactyly
MedGen UID:
451635
Concept ID:
CN117155
Finding
A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.
Camptodactyly
MedGen UID:
507335
Concept ID:
CN180568
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Sparse eyebrow
MedGen UID:
500888
Concept ID:
CN000501
Finding
Decreased density/number and/or decreased diameter of eyebrow hairs.
Cutis laxa
MedGen UID:
504669
Concept ID:
CN000911
Finding
Wrinkled, redundant, inelastic and sagging skin.
Highly arched eyebrow
MedGen UID:
500931
Concept ID:
CN002318
Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Defect in the atrial septum
MedGen UID:
504879
Concept ID:
CN001485
Finding
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Patent ductus arteriosus
MedGen UID:
504886
Concept ID:
CN001496
Finding
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.
Transposition of the great arteries
MedGen UID:
504901
Concept ID:
CN001518
Finding
A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.
Situs inversus totalis
MedGen UID:
504917
Concept ID:
CN001542
Finding
A left-right reversal (or \
Camptodactyly
MedGen UID:
507335
Concept ID:
CN180568
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Camptodactyly
MedGen UID:
507335
Concept ID:
CN180568
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Coxa vara
MedGen UID:
116081
Concept ID:
C0239138
Finding
Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Talipes equinovarus
MedGen UID:
335852
Concept ID:
C1842988
Finding
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Aplasia of the middle phalanx of the hand
MedGen UID:
429527
Concept ID:
CN009071
Finding
Absence of one or more middle phalanx of a finger.
Cutaneous finger syndactyly
MedGen UID:
429584
Concept ID:
CN009385
Finding
A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.
Preaxial polydactyly
MedGen UID:
506459
Concept ID:
CN117154
Finding
A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.
Postaxial polydactyly
MedGen UID:
451635
Concept ID:
CN117155
Finding
A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.

Recent clinical studies

Etiology

Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. PMID: 23624130
Salyer KE, Por YC, Genecov DG, Barcelo CR
J Craniofac Surg 2008 Mar;19(2):369-76. doi: 10.1097/SCS.0b013e318163e3b9. PMID: 18362713
Pierquin G, Seligmann R, Van Regemorter N
Genet Couns 1992;3(2):101-5. PMID: 1642806
Higurashi M, Oda M, Iijima K, Iijima S, Takeshita T, Watanabe N, Yoneyama K
Brain Dev 1990;12(6):770-3. PMID: 2092586
Frias JL, Felman AH, Rosenbloom AL, Finkelstein SN, Hoyt WF, Hall BD
Am J Med Genet 1978;2(2):191-9. doi: 10.1002/ajmg.1320020210. PMID: 263437

Diagnosis

Begum S, Khatun N, Rayhan SM, Rahman SA
Mymensingh Med J 2012 Jul;21(3):547-9. PMID: 22828559
Chen CP
Taiwan J Obstet Gynecol 2007 Jun;46(2):111-20. doi: 10.1016/S1028-4559(07)60004-7. PMID: 17638618
Pierquin G, Seligmann R, Van Regemorter N
Genet Couns 1992;3(2):101-5. PMID: 1642806
Gershoni-Baruch R
Am J Med Genet 1990 Feb;35(2):236-40. doi: 10.1002/ajmg.1320350218. PMID: 2309763
Paul SS, Punnachalil M
Indian Pediatr 1979 Feb;16(2):191-5. PMID: 457235

Prognosis

Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. PMID: 23624130
Salyer KE, Por YC, Genecov DG, Barcelo CR
J Craniofac Surg 2008 Mar;19(2):369-76. doi: 10.1097/SCS.0b013e318163e3b9. PMID: 18362713
Pierquin G, Seligmann R, Van Regemorter N
Genet Couns 1992;3(2):101-5. PMID: 1642806
Higurashi M, Oda M, Iijima K, Iijima S, Takeshita T, Watanabe N, Yoneyama K
Brain Dev 1990;12(6):770-3. PMID: 2092586
Frias JL, Felman AH, Rosenbloom AL, Finkelstein SN, Hoyt WF, Hall BD
Am J Med Genet 1978;2(2):191-9. doi: 10.1002/ajmg.1320020210. PMID: 263437

Clinical prediction guides

Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. PMID: 23624130
Alessandri JL, Dagoneau N, Laville JM, Baruteau J, Hébert JC, Cormier-Daire V
Am J Med Genet A 2010 Apr;152A(4):982-6. doi: 10.1002/ajmg.a.33327. PMID: 20358613
Higurashi M, Oda M, Iijima K, Iijima S, Takeshita T, Watanabe N, Yoneyama K
Brain Dev 1990;12(6):770-3. PMID: 2092586
Frias JL, Felman AH, Rosenbloom AL, Finkelstein SN, Hoyt WF, Hall BD
Am J Med Genet 1978;2(2):191-9. doi: 10.1002/ajmg.1320020210. PMID: 263437

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