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Hypertrichotic osteochondrodysplasia

MedGen UID:
208647
Concept ID:
C0795905
Disease or Syndrome
Synonyms: Cantu syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Cantu syndrome (239087008); Cantu's syndrome (239087008)
 
Gene: ABCC9
Cytogenetic location: 12p12.1
OMIM®: 239850
Orphanet: ORPHA1517

Definition

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair which extends onto the forehead and to a general increase in body hair. Some features are suggestive of a storage disorder, including macrocephaly and coarse facial features, with a broad nasal bridge, epicanthal folds, wide mouth, and full lips. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability (summary by van Bon et al., 2012). [from OMIM]

Additional description

From GHR
Cantú syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals. People with Cantú syndrome have thick scalp hair that extends onto the forehead and grows down onto the cheeks in front of the ears. They also have increased body hair, especially on the back, arms, and legs. Most affected individuals have a large head (macrocephaly) and distinctive facial features that are described as "coarse." These include a broad nasal bridge, skin folds covering the inner corner of the eyes (epicanthal folds), and a wide mouth with full lips. As affected individuals get older, the face lengthens, the chin becomes more prominent, and the eyes become deep-set. Many infants with Cantú syndrome are born with a heart defect such as an enlarged heart (cardiomegaly) or patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with PDA. Other heart problems have also been found in people with Cantú syndrome, including an abnormal buildup of fluid around the heart (pericardial effusion) and high blood pressure in the blood vessels that carry blood from the heart to the lungs (pulmonary hypertension). Additional features of this condition include distinctive skeletal abnormalities, a large body size (macrosomia) at birth, a reduced amount of fat under the skin (subcutaneous fat) beginning in childhood, deep horizontal creases in the palms of the hands and soles of the feet, and an increased susceptibility to respiratory infections. Other signs and symptoms that have been reported include abnormal swelling in the body's tissues (lymphedema), side-to-side curvature of the spine (scoliosis), and reduced bone density (osteopenia). Some affected children have weak muscle tone (hypotonia) that delays the development of motor skills such as sitting, standing, and walking. Most have mildly delayed speech, and some affected children have mild intellectual disability or learning problems.  http://ghr.nlm.nih.gov/condition/cantu-syndrome

Clinical features

Large for gestational age
MedGen UID:
56389
Concept ID:
C0158915
Finding
A fetus or infant who is larger than expected for the age or gender, or who has a birth weight greater than the 90th percentile.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Epicanthus
MedGen UID:
724513
Concept ID:
C1303004
Finding
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Prominent supraorbital ridges
MedGen UID:
333982
Concept ID:
C1842060
Finding
Low anterior hairline
MedGen UID:
331280
Concept ID:
C1842366
Finding
Large sella turcica
MedGen UID:
334811
Concept ID:
C1843677
Finding
Thick upper lip vermilion
MedGen UID:
339521
Concept ID:
C1846423
Finding
Anteverted nares
MedGen UID:
339940
Concept ID:
C1853244
Finding
Long eyelashes
MedGen UID:
342955
Concept ID:
C1853738
Finding
Coarse facial features
MedGen UID:
381459
Concept ID:
C1854600
Finding
Widened posterior fossa
MedGen UID:
340998
Concept ID:
C1855889
Finding
Low posterior hairline
MedGen UID:
355889
Concept ID:
C1865008
Finding
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Curly eyelashes
MedGen UID:
382159
Concept ID:
C2673670
Finding
Wide mouth
MedGen UID:
504368
Concept ID:
CN000150
Finding
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Thick lower lip vermilion
MedGen UID:
504381
Concept ID:
CN000174
Finding
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Gingival overgrowth
MedGen UID:
504394
Concept ID:
CN000205
Finding
Hyperplasia of the gingiva (FMA:59762, that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Wide nasal bridge
MedGen UID:
504442
Concept ID:
CN000404
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Thick eyebrow
MedGen UID:
500889
Concept ID:
CN000539
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
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.
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Intellectual disability, mild
MedGen UID:
504770
Concept ID:
CN001151
Finding
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Coxa valga
MedGen UID:
116080
Concept ID:
C0239137
Finding
Hip deformity in which the angle between the femoral neck and its shaft is increased. It may be congenital, acquired, or developmental.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Ovoid vertebral bodies
MedGen UID:
373195
Concept ID:
C1836864
Finding
Large sella turcica
MedGen UID:
334811
Concept ID:
C1843677
Finding
Finger syndactyly
MedGen UID:
376634
Concept ID:
C1849671
Finding
Short hallux
MedGen UID:
342678
Concept ID:
C1851135
Finding
Metaphyseal widening
MedGen UID:
344455
Concept ID:
C1855248
Finding
A radiologic finding characterized by an increased width of the metaphyseal regions. It is seen in rickets.
Widened posterior fossa
MedGen UID:
340998
Concept ID:
C1855889
Finding
Erlenmeyer flask deformity of the femurs
MedGen UID:
383796
Concept ID:
C1855895
Finding
Broad first metatarsal
MedGen UID:
341001
Concept ID:
C1855899
Finding
Platyspondyly
MedGen UID:
355353
Concept ID:
C1865023
Finding
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Cuboid-shaped vertebral bodies
MedGen UID:
392973
Concept ID:
C2673653
Finding
Reduced bone mineral density
MedGen UID:
393152
Concept ID:
C2674432
Finding
Osteoporosis
MedGen UID:
776590
Concept ID:
C2911643
Finding
Abnormality of the ribs
MedGen UID:
427835
Concept ID:
CN000726
Finding
An anomaly of the rib.
Narrow chest
MedGen UID:
504594
Concept ID:
CN000728
Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Abnormality of the metaphyses
MedGen UID:
428237
Concept ID:
CN000883
Finding
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Preaxial foot polydactyly
MedGen UID:
504971
Concept ID:
CN001666
Finding
Duplication of all or part of the first ray.
Skeletal dysplasia
MedGen UID:
505316
Concept ID:
CN002411
Finding
A general term describing features characterized by abnormal development of bones and connective tissues.
Delayed skeletal maturation
MedGen UID:
505344
Concept ID:
CN002495
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Abnormality of the shoulder
MedGen UID:
446468
Concept ID:
CN002749
Finding
An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.
Abnormality of the hip bone
MedGen UID:
425136
Concept ID:
CN002954
Finding
An abnormality of the hip bone.
Accelerated skeletal maturation
MedGen UID:
428158
Concept ID:
CN004973
Finding
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Hypoplastic ischiopubic rami
MedGen UID:
501053
Concept ID:
CN007762
Finding
Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium.
Short distal phalanx of finger
MedGen UID:
426588
Concept ID:
CN008720
Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Broad hallux
MedGen UID:
506344
Concept ID:
CN008889
Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Low anterior hairline
MedGen UID:
331280
Concept ID:
C1842366
Finding
Long eyelashes
MedGen UID:
342955
Concept ID:
C1853738
Finding
Deep plantar creases
MedGen UID:
341890
Concept ID:
C1857953
Finding
Low posterior hairline
MedGen UID:
355889
Concept ID:
C1865008
Finding
Curly eyelashes
MedGen UID:
382159
Concept ID:
C2673670
Finding
Thick eyebrow
MedGen UID:
500889
Concept ID:
CN000539
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Hypertrichosis
MedGen UID:
504680
Concept ID:
CN000934
Finding
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Congenital, generalized hypertrichosis
MedGen UID:
505656
Concept ID:
CN004028
Finding
A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.
Cardiomegaly
MedGen UID:
5459
Concept ID:
C0018800
Finding
hypertrophy or enlargement of the heart.
Congenital hypertrophy of left ventricle
MedGen UID:
341003
Concept ID:
C1855901
Finding
Hypertrophic cardiomyopathy
MedGen UID:
504884
Concept ID:
CN001492
Finding
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
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.
Bicuspid aortic valve
MedGen UID:
504889
Concept ID:
CN001500
Finding
The presence of an aortic valve with two instead of the normal three cusps (flaps).
Abnormality of the heart valves
MedGen UID:
446421
Concept ID:
CN001506
Finding
An abnormality of a Cardiac valve.
Pericardial effusion
MedGen UID:
504918
Concept ID:
CN001544
Finding
Accumulation of fluid within the pericardium.
Lymphedema
MedGen UID:
320553
Concept ID:
C1835229
Finding
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Coxa valga
MedGen UID:
116080
Concept ID:
C0239137
Finding
Hip deformity in which the angle between the femoral neck and its shaft is increased. It may be congenital, acquired, or developmental.
Finger syndactyly
MedGen UID:
376634
Concept ID:
C1849671
Finding
Short hallux
MedGen UID:
342678
Concept ID:
C1851135
Finding
Metaphyseal widening
MedGen UID:
344455
Concept ID:
C1855248
Finding
A radiologic finding characterized by an increased width of the metaphyseal regions. It is seen in rickets.
Erlenmeyer flask deformity of the femurs
MedGen UID:
383796
Concept ID:
C1855895
Finding
Broad first metatarsal
MedGen UID:
341001
Concept ID:
C1855899
Finding
Abnormality of the metaphyses
MedGen UID:
428237
Concept ID:
CN000883
Finding
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Preaxial foot polydactyly
MedGen UID:
504971
Concept ID:
CN001666
Finding
Duplication of all or part of the first ray.
Short distal phalanx of finger
MedGen UID:
426588
Concept ID:
CN008720
Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Broad hallux
MedGen UID:
506344
Concept ID:
CN008889
Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGHypertrichotic osteochondrodysplasia

Recent clinical studies

Diagnosis

Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH
Eur J Med Genet 2013 Dec;56(12):678-82. Epub 2013 Oct 28 doi: 10.1016/j.ejmg.2013.09.009. [Epub ahead of print] PMID: 24176758Free PMC Article

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