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Rothmund-Thomson syndrome(RTS)

MedGen UID:
10819
Concept ID:
C0032339
Disease or Syndrome
Synonyms: Poikiloderma atrophicans and cataract; Poikiloderma Congenitale; Poikiloderma of Rothmund-Thomson; RECQL4-Related Disorders; RTS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Rothmund-Thomson syndrome (69093006); Poikiloderma congenitale syndrome (69093006); Poikiloderma congenitale (69093006)
 
Gene (location): RECQL4 (8q24.3)
OMIM®: 268400
Orphanet: ORPHA2909

Disease characteristics

Excerpted from the GeneReview: Rothmund-Thomson Syndrome
Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma; sparse hair, eyelashes, and/or eyebrows; small stature; skeletal and dental abnormalities; cataracts; and an increased risk for cancer, especially osteosarcoma. The skin is typically normal at birth; the rash of RTS develops between age three and six months as erythema, swelling, and blistering on the face and subsequently spreads to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, punctate atrophy, and telangiectasias, collectively known as poikiloderma. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities include radial ray defects, ulnar defects, absent or hypoplastic patella, and osteopenia. [from GeneReviews]
Authors:
Lisa L Wang  |  Sharon E Plon   view full author information

Additional descriptions

From OMIM
Rothmund-Thomson syndrome is rare autosomal recessive disorder characterized by skin atrophy, telangiectasia, hyper- and hypopigmentation, congenital skeletal abnormalities, short stature, premature aging, and increased risk of malignant disease (Simon et al., 2010). Genetic Heterogeneity of Rothmund-Thomson Syndrome Wang et al. (2003) analyzed the RECQL4 gene in 33 RTS patients and found an absence of RECQL4 mutations in 10 patients. Analysis of a family with an affected sib pair excluded RECQL4 as a recessive locus for RTS in the family, arguing strongly for genetic heterogeneity in RTS. Simon et al. (2010) stated that only 40 to 66% of patients with RTS have been found to have mutation in the RECQL4 gene, indicating genetic heterogeneity.  http://www.omim.org/entry/268400
From GHR
Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin. People with this condition typically develop redness on the cheeks between ages 3 months and 6 months. Over time the rash spreads to the arms and legs, causing patchy changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under the skin (telangiectases). These skin problems persist for life and are collectively known as poikiloderma.Rothmund-Thomson syndrome is also characterized by sparse hair, eyebrows, and eyelashes; slow growth and small stature; abnormalities of the teeth and nails; and gastrointestinal problems in infancy, such as chronic diarrhea and vomiting. Some affected children develop a clouding of the lens of the eye (cataract), which affects vision. Many people with this disorder have skeletal abnormalities including absent or malformed bones, fused bones, and low bone mineral density (osteopenia or osteoporosis). Some of these abnormalities affect the development of bones in the forearms and the thumbs, and are known as radial ray malformations.People with Rothmund-Thomson syndrome have an increased risk of developing cancer, particularly a form of bone cancer called osteosarcoma. These bone tumors most often develop during childhood or adolescence. Several types of skin cancer, including basal cell carcinoma and squamous cell carcinoma, are also more common in people with this disorder.The varied signs and symptoms of Rothmund-Thomson syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and RAPADILINO syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Rothmund-Thomson syndrome, Baller-Gerold syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.  https://ghr.nlm.nih.gov/condition/rothmund-thomson-syndrome

Clinical features

Hypertension
MedGen UID:
635666
Concept ID:
C0497247
Finding
A finding of increased blood pressure; not necessarily hypertensive disorder
Disorder of adrenal gland
MedGen UID:
155
Concept ID:
C0001621
Disease or Syndrome
The adrenal glands are small glands located on top of each kidney. They produce hormones that you can't live without, including sex hormones and cortisol. Cortisol helps you respond to stress and has many other important functions. With adrenal gland disorders, your glands make too much or not enough hormones. In Cushing's syndrome, there's too much cortisol, while with Addison's disease, there is too little. Some people are born unable to make enough cortisol. Causes of adrenal gland disorders include. -Genetic mutations. -Tumors including pheochromocytomas. -Infections. -A problem in another gland, such as the pituitary, which helps to regulate the adrenal gland. -Certain medicines. Treatment depends on which problem you have. Surgery or medicines can treat many adrenal gland disorders. NIH: National Institute of Child Health and Human Development.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).
Enophthalmos
MedGen UID:
8638
Concept ID:
C0014306
Disease or Syndrome
An eye that is more deeply recessed into the plane of the face than is typical.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.In most people with glaucoma, the damage to the optic nerves is caused by increased pressure within the eyes (intraocular pressure). Intraocular pressure depends on a balance between fluid entering and leaving the eyes.Usually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions including high blood pressure (hypertension) and diabetes mellitus, as well as family history. The risk of early-onset glaucoma depends mainly on heredity.Structural abnormalities that impede fluid drainage in the eye may be present at birth and usually become apparent during the first year of life. Such abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 5 without other associated abnormalities, it is called primary congenital glaucoma.Other individuals experience early onset of primary open-angle glaucoma, the most common adult form of glaucoma. If primary open-angle glaucoma develops during childhood or early adulthood, it is called juvenile open-angle glaucoma.
Microphthalmos
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.
Decreased corneal diameter
MedGen UID:
892440
Concept ID:
C1167713
Finding
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Juvenile zonular cataracts
MedGen UID:
336573
Concept ID:
C1849324
Finding
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).
Ptosis
MedGen UID:
504471
Concept ID:
CN000475
Finding
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Decreased corneal thickness
MedGen UID:
451956
Concept ID:
CN117580
Finding
A decreased anteroposterior thickness of the cornea.
Osteosarcoma
MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process
A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
Neoplasm of the skin
MedGen UID:
19993
Concept ID:
C0037286
Neoplastic Process
A tumor (abnormal growth of tissue) of the skin.
Hypoplastic myelodysplasia
MedGen UID:
343695
Concept ID:
C1851971
Finding
Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.
Neoplasm of the stomach
MedGen UID:
425846
Concept ID:
CN005879
Finding
A tumor (abnormal growth of tissue) of the stomach.
Sarcoma
MedGen UID:
506452
Concept ID:
CN117138
Finding
A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).
Dysplasia of acetabulum
MedGen UID:
9258
Concept ID:
C0019555
Congenital Abnormality
The presence of developmental dysplasia of the hip.
Short thumb
MedGen UID:
98469
Concept ID:
C0431890
Congenital Abnormality
A congenital abnormality characterized by hypoplasia or absence of the thumb. It may be associated with other congenital abnormalities.
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Disproportionately small hand.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Forearm reduction defects
MedGen UID:
336575
Concept ID:
C1849327
Finding
Aplasia/Hypoplasia of the radius
MedGen UID:
411844
Concept ID:
C2749463
Finding
A small/hypoplastic or absent/aplastic radius.
Aplasia/Hypoplasia of the thumb
MedGen UID:
465975
Concept ID:
C3179508
Finding
Hypoplastic/small or absent thumb.
Abnormality of the metacarpal bones
MedGen UID:
867414
Concept ID:
C4021785
Anatomical Abnormality
An abnormality of the metacarpal bones.
Talipes equinovarus
MedGen UID:
504945
Concept ID:
CN001602
Finding
Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
Abnormality of the ulna
MedGen UID:
446463
Concept ID:
CN002710
Finding
An abnormality of the ulna bone of the forearm.
Telangiectasia
MedGen UID:
21088
Concept ID:
C0039446
Disease or Syndrome
a visibly dilated blood vessel on the skin
Hypertension
MedGen UID:
635666
Concept ID:
C0497247
Finding
A finding of increased blood pressure; not necessarily hypertensive disorder
Cutis marmorata
MedGen UID:
500896
Concept ID:
CN000903
Finding
A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Pyloric stenosis
MedGen UID:
18780
Concept ID:
C0034194
Pathologic Function
An abnormal narrowing of the pylorus.
Annular pancreas
MedGen UID:
56211
Concept ID:
C0149955
Congenital Abnormality
A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.
Anteriorly placed anus
MedGen UID:
333160
Concept ID:
C1838705
Finding
Anterior malposition of the anus.
Nausea and vomiting
MedGen UID:
505054
Concept ID:
CN001825
Finding
Neoplasm of the stomach
MedGen UID:
425846
Concept ID:
CN005879
Finding
A tumor (abnormal growth of tissue) of the stomach.
Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
External ear malformation
MedGen UID:
335428
Concept ID:
C1846460
Anatomical Abnormality
An abnormality of the external ear.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Cognitive impairment
MedGen UID:
451875
Concept ID:
CN117436
Finding
Abnormality in the process of thought including the ability to process information.
Abnormality of granulocytes
MedGen UID:
488900
Concept ID:
C0427515
Finding
An abnormality of granulocytes.
Hypoplastic myelodysplasia
MedGen UID:
343695
Concept ID:
C1851971
Finding
Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.
Abnormality of the bronchi
MedGen UID:
428294
Concept ID:
CN001910
Finding
An abnormality of the set of bronchi.
Pyloric stenosis
MedGen UID:
18780
Concept ID:
C0034194
Pathologic Function
An abnormal narrowing of the pylorus.
Annular pancreas
MedGen UID:
56211
Concept ID:
C0149955
Congenital Abnormality
A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.
Anteriorly placed anus
MedGen UID:
333160
Concept ID:
C1838705
Finding
Anterior malposition of the anus.
Nausea and vomiting
MedGen UID:
505054
Concept ID:
CN001825
Finding
Neoplasm of the stomach
MedGen UID:
425846
Concept ID:
CN005879
Finding
A tumor (abnormal growth of tissue) of the stomach.
Abnormality of granulocytes
MedGen UID:
488900
Concept ID:
C0427515
Finding
An abnormality of granulocytes.
Abnormal immunoglobulin level
MedGen UID:
340953
Concept ID:
C1855755
Finding
An abnormal deviation from normal levels of immunoglobulins in blood.
Dysplasia of acetabulum
MedGen UID:
9258
Concept ID:
C0019555
Congenital Abnormality
The presence of developmental dysplasia of the hip.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis makes your bones weak and more likely to break. Anyone can develop osteoporosis, but it is common in older women. As many as half of all women and a quarter of men older than 50 will break a bone due to osteoporosis. Risk factors include . - Getting older . - Being small and thin . - Having a family history of osteoporosis. - Taking certain medicines. - Being a white or Asian woman. - Having osteopenia, which is low bone density. Osteoporosis is a silent disease. You might not know you have it until you break a bone. A bone mineral density test is the best way to check your bone health. To keep bones strong, eat a diet rich in calcium and vitamin D, exercise and do not smoke. If needed, medicines can also help. . NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.
Osteosarcoma
MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process
A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Short thumb
MedGen UID:
98469
Concept ID:
C0431890
Congenital Abnormality
A congenital abnormality characterized by hypoplasia or absence of the thumb. It may be associated with other congenital abnormalities.
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Disproportionately small hand.
Scoliosis
MedGen UID:
195976
Concept ID:
C0700208
Finding
The presence of an abnormal lateral curvature of the spine.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The ability of a joint to move beyond its normal range of motion.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Limitation of joint mobility
MedGen UID:
341696
Concept ID:
C1857108
Finding
A reduction in the freedom of movement of one or more joints.
Hypoplastic mandible condyle
MedGen UID:
347379
Concept ID:
C1857130
Anatomical Abnormality
Developmental hypoplasia of the mandible.
Reduced bone mineral density
MedGen UID:
393152
Concept ID:
C2674432
Finding
A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
Aplasia/Hypoplasia of the radius
MedGen UID:
411844
Concept ID:
C2749463
Finding
A small/hypoplastic or absent/aplastic radius.
Aplasia/Hypoplasia of the thumb
MedGen UID:
465975
Concept ID:
C3179508
Finding
Hypoplastic/small or absent thumb.
Abnormality of the hip bone
MedGen UID:
867370
Concept ID:
C4021735
Anatomical Abnormality
An abnormality of the hip bone.
Abnormality of the metacarpal bones
MedGen UID:
867414
Concept ID:
C4021785
Anatomical Abnormality
An abnormality of the metacarpal bones.
Abnormality of the sacrum
MedGen UID:
870793
Concept ID:
C4025250
Anatomical Abnormality
An abnormality of the sacral bone.
Craniosynostosis
MedGen UID:
504814
Concept ID:
CN001249
Finding
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Joint dislocation
MedGen UID:
504818
Concept ID:
CN001258
Finding
Displacement or malalignment of joints.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Kyphoscoliosis
MedGen UID:
425109
Concept ID:
CN002496
Finding
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Abnormality of the ulna
MedGen UID:
446463
Concept ID:
CN002710
Finding
An abnormality of the ulna bone of the forearm.
Enophthalmos
MedGen UID:
8638
Concept ID:
C0014306
Disease or Syndrome
An eye that is more deeply recessed into the plane of the face than is typical.
Microphthalmos
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Teeth, supernumerary
MedGen UID:
21210
Concept ID:
C0040457
Congenital Abnormality
An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption.
Cleft lip/palate
MedGen UID:
57640
Concept ID:
C0158646
Finding
Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during pregnancy. A baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the tissue that makes up the lip does not join completely before birth. This causes an opening in the upper lip. The opening can be a small slit or a large opening that goes through the lip into the nose. It can be on one or both sides of the lip or, rarely, in the middle of the lip. Children with a cleft lip also can have a cleft palate. The roof of the mouth is called the palate. With a cleft palate, the tissue that makes up the roof of the mouth does not join correctly. Babies may have both the front and back parts of the palate open, or they may have only one part open. Children with a cleft lip or a cleft palate often have problems with feeding and talking. They also might have ear infections, hearing loss, and problems with their teeth. Often, surgery can close the lip and palate. Cleft lip surgery is usually done before age 12 months, and cleft palate surgery is done before 18 months. Many children have other complications. They may need additional surgeries, dental and orthodontic care, and speech therapy as they get older. With treatment, most children with clefts do well and lead a healthy life. Centers for Disease Control and Prevention.
Microdontia
MedGen UID:
66008
Concept ID:
C0240340
Congenital Abnormality
Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Anodontia of permanent dentition
MedGen UID:
224851
Concept ID:
C1290511
Congenital Abnormality
A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.
Epicanthus
MedGen UID:
724513
Concept ID:
C1303004
Finding
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Hypoplastic mandible condyle
MedGen UID:
347379
Concept ID:
C1857130
Anatomical Abnormality
Developmental hypoplasia of the mandible.
Short philtrum
MedGen UID:
350006
Concept ID:
C1861324
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Carious teeth
MedGen UID:
401327
Concept ID:
C1867882
Finding
Sparse or absent eyebrows
MedGen UID:
764344
Concept ID:
C3551430
Finding
Absence or underdevelopment of the eyebrow.
Reduced number of teeth
MedGen UID:
869773
Concept ID:
C4024202
Finding
The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.
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).
Craniosynostosis
MedGen UID:
504814
Concept ID:
CN001249
Finding
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition. . Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration. .
Neoplasm of the skin
MedGen UID:
19993
Concept ID:
C0037286
Neoplastic Process
A tumor (abnormal growth of tissue) of the skin.
Telangiectasia
MedGen UID:
21088
Concept ID:
C0039446
Disease or Syndrome
a visibly dilated blood vessel on the skin
Dermal atrophy
MedGen UID:
101793
Concept ID:
C0151514
Disease or Syndrome
Partial or complete wasting (atrophy) of the skin.
Dry skin
MedGen UID:
56250
Concept ID:
C0151908
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
skin bullae
MedGen UID:
451011
Concept ID:
C0241054
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Premature graying of hair
MedGen UID:
75524
Concept ID:
C0263498
Finding
Development of gray hair at a younger than normal age.
Cutaneous photosensitivity
MedGen UID:
87601
Concept ID:
C0349506
Pathologic Function
increased sensitivity of the skin to light and other sources of UV
Poikiloderma
MedGen UID:
97905
Concept ID:
C0392777
Disease or Syndrome
Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.
Abnormality of the nail
MedGen UID:
163115
Concept ID:
C0853087
Finding
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Hypopigmented skin patches
MedGen UID:
373164
Concept ID:
C1836735
Finding
Irregular hyperpigmentation
MedGen UID:
349760
Concept ID:
C1860236
Finding
Thin, sparse hair
MedGen UID:
349904
Concept ID:
C1860844
Sign or Symptom
Reduced density of hairs.
Sparse or absent eyebrows
MedGen UID:
764344
Concept ID:
C3551430
Finding
Absence or underdevelopment of the eyebrow.
Abnormal hair quantity
MedGen UID:
868983
Concept ID:
C4023397
Anatomical Abnormality
An abnormal amount of hair.
Aplasia/Hypoplasia of the skin
MedGen UID:
870295
Concept ID:
C4024737
Finding
Cutis marmorata
MedGen UID:
500896
Concept ID:
CN000903
Finding
A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather.
Skin ulcer
MedGen UID:
506561
Concept ID:
CN117783
Finding
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRothmund-Thomson syndrome
Follow this link to review classifications for Rothmund-Thomson syndrome in Orphanet.

Recent clinical studies

Etiology

Rathi NV, Bhattad MS, Thosar N, Baliga S
BMJ Case Rep 2015 Jun 1;2015 doi: 10.1136/bcr-2015-209994. PMID: 26032705
Zils K, Klingebiel T, Behnisch W, Mueller HL, Schlegel PG, Fruehwald M, Suttorp M, Simon T, Werner M, Bielack S
Pediatr Hematol Oncol 2015 Feb;32(1):32-40. Epub 2014 Dec 31 doi: 10.3109/08880018.2014.987939. [Epub ahead of print] PMID: 25551679
Lu L, Jin W, Liu H, Wang LL
Adv Exp Med Biol 2014;804:129-45. doi: 10.1007/978-3-319-04843-7_7. PMID: 24924172
Colombo EA, Fontana L, Roversi G, Negri G, Castiglia D, Paradisi M, Zambruno G, Larizza L
Eur J Hum Genet 2014 Nov;22(11):1298-304. Epub 2014 Feb 12 doi: 10.1038/ejhg.2014.18. [Epub ahead of print] PMID: 24518840Free PMC Article
Carlson AM, Lindor NM, Litzow MR
Eur J Haematol 2011 Jun;86(6):536-40. doi: 10.1111/j.1600-0609.2011.01609.x. PMID: 21418107

Diagnosis

Rathi NV, Bhattad MS, Thosar N, Baliga S
BMJ Case Rep 2015 Jun 1;2015 doi: 10.1136/bcr-2015-209994. PMID: 26032705
Zils K, Klingebiel T, Behnisch W, Mueller HL, Schlegel PG, Fruehwald M, Suttorp M, Simon T, Werner M, Bielack S
Pediatr Hematol Oncol 2015 Feb;32(1):32-40. Epub 2014 Dec 31 doi: 10.3109/08880018.2014.987939. [Epub ahead of print] PMID: 25551679
Colombo EA, Fontana L, Roversi G, Negri G, Castiglia D, Paradisi M, Zambruno G, Larizza L
Eur J Hum Genet 2014 Nov;22(11):1298-304. Epub 2014 Feb 12 doi: 10.1038/ejhg.2014.18. [Epub ahead of print] PMID: 24518840Free PMC Article
Larizza L, Roversi G, Verloes A
Eur J Hum Genet 2013 Jul;21(7) Epub 2012 Nov 28 doi: 10.1038/ejhg.2012.260. [Epub ahead of print] PMID: 23188052Free PMC Article
Carlson AM, Thomas KB, Kirmani S, Lindor NM
Am J Med Genet A 2012 Sep;158A(9):2250-3. Epub 2012 Jul 20 doi: 10.1002/ajmg.a.35475. [Epub ahead of print] PMID: 22821900

Therapy

Zils K, Klingebiel T, Behnisch W, Mueller HL, Schlegel PG, Fruehwald M, Suttorp M, Simon T, Werner M, Bielack S
Pediatr Hematol Oncol 2015 Feb;32(1):32-40. Epub 2014 Dec 31 doi: 10.3109/08880018.2014.987939. [Epub ahead of print] PMID: 25551679
Carlson AM, Lindor NM, Litzow MR
Eur J Haematol 2011 Jun;86(6):536-40. doi: 10.1111/j.1600-0609.2011.01609.x. PMID: 21418107
Altunay I, Fisek N, Gokdemir G, Sakız D, Cetincelik U
Int Wound J 2010 Dec;7(6):531-5. Epub 2010 Sep 21 doi: 10.1111/j.1742-481X.2010.00734.x. [Epub ahead of print] PMID: 20860557
Hicks MJ, Roth JR, Kozinetz CA, Wang LL
J Clin Oncol 2007 Feb 1;25(4):370-5. doi: 10.1200/JCO.2006.08.4558. PMID: 17264332
Leonard A, Craft AW, Moss C, Malcolm AJ
Med Pediatr Oncol 1996 Apr;26(4):249-53. doi: 10.1002/(SICI)1096-911X(199604)26:4<249::AID-MPO5>3.0.CO;2-J. PMID: 8600336

Prognosis

Rathi NV, Bhattad MS, Thosar N, Baliga S
BMJ Case Rep 2015 Jun 1;2015 doi: 10.1136/bcr-2015-209994. PMID: 26032705
Colombo EA, Fontana L, Roversi G, Negri G, Castiglia D, Paradisi M, Zambruno G, Larizza L
Eur J Hum Genet 2014 Nov;22(11):1298-304. Epub 2014 Feb 12 doi: 10.1038/ejhg.2014.18. [Epub ahead of print] PMID: 24518840Free PMC Article
Mroczek S, Krwawicz J, Kutner J, Lazniewski M, Kuciński I, Ginalski K, Dziembowski A
Genes Dev 2012 Sep 1;26(17):1911-25. Epub 2012 Aug 16 doi: 10.1101/gad.193169.112. [Epub ahead of print] PMID: 22899009Free PMC Article
Carlson AM, Lindor NM, Litzow MR
Eur J Haematol 2011 Jun;86(6):536-40. doi: 10.1111/j.1600-0609.2011.01609.x. PMID: 21418107
Simon T, Kohlhase J, Wilhelm C, Kochanek M, De Carolis B, Berthold F
Am J Med Genet A 2010 Jun;152A(6):1575-9. doi: 10.1002/ajmg.a.33427. PMID: 20503338

Clinical prediction guides

Colombo EA, Fontana L, Roversi G, Negri G, Castiglia D, Paradisi M, Zambruno G, Larizza L
Eur J Hum Genet 2014 Nov;22(11):1298-304. Epub 2014 Feb 12 doi: 10.1038/ejhg.2014.18. [Epub ahead of print] PMID: 24518840Free PMC Article
Mercier S, Küry S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bézieau S, Mayosi BM
Am J Hum Genet 2013 Dec 5;93(6):1100-7. Epub 2013 Nov 21 doi: 10.1016/j.ajhg.2013.10.013. [Epub ahead of print] PMID: 24268661Free PMC Article
Mroczek S, Krwawicz J, Kutner J, Lazniewski M, Kuciński I, Ginalski K, Dziembowski A
Genes Dev 2012 Sep 1;26(17):1911-25. Epub 2012 Aug 16 doi: 10.1101/gad.193169.112. [Epub ahead of print] PMID: 22899009Free PMC Article
Croteau DL, Rossi ML, Ross J, Dawut L, Dunn C, Kulikowicz T, Bohr VA
Biochim Biophys Acta 2012 Nov;1822(11):1727-34. Epub 2012 Jul 31 doi: 10.1016/j.bbadis.2012.07.014. [Epub ahead of print] PMID: 22885111Free PMC Article
Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, Puzenat E, Goldenberg A, Toutain A, Franques J, MacDermot K, Bessis D, Boute O, Callier P, Gueneau L, Huet F, Vabres P, Catteau B, Faivre L, Thauvin-Robinet C
Eur J Med Genet 2012 Jan;55(1):8-11. Epub 2011 Aug 18 doi: 10.1016/j.ejmg.2011.07.004. [Epub ahead of print] PMID: 21872685

Recent systematic reviews

Raulin C, Greve B, Grema H
Lasers Surg Med 2003;32(2):78-87. doi: 10.1002/lsm.10145. PMID: 12561039

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