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Child syndrome

MedGen UID:
82697
Concept ID:
C0265267
Disease or Syndrome
Synonyms: congenital hemidysplasia with ichthyosiform erythroderma and limb defects; Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects; Ichthyosis, CHILD syndrome; NSDHL-Related Disorders
Modes of inheritance:
Heterogeneous
MedGen UID:
5539
Concept ID:
C0019409
Qualitative Concept
Made up of elements or ingredients that are not alike.
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
SNOMED CT: Child syndrome (17608003)
 
Gene: NSDHL
Cytogenetic location: Xq28
OMIM: 308050

Disease characteristics

Excerpted from the GeneReview: NSDHL-Related Disorders
The NSDHL-related disorders include: CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, an X-linked dominant condition that is usually male lethal during gestation and thus predominantly affects females; and CK syndrome, an X-linked recessive disorder that affects males. CHILD syndrome is characterized by unilateral distribution of ichthyosiform (yellow scaly) skin lesions and ipsilateral limb defects that range from shortening of the metacarpals and phalanges to absence of the entire limb. Intellect is usually normal. The ichthyosiform skin lesions are usually present at birth or in the first weeks of life; new lesions can develop in later life. Nail changes are also common. The heart, lung, and kidneys can also be involved. CK syndrome (named for the initials of the original proband) is characterized by mild to severe cognitive impairment and behavior problems (aggression, attention deficit hyperactivity disorder [ADHD], and irritability). All affected males reported have developed seizures in infancy and have cerebral cortical malformations and microcephaly. All have distinctive facial features, a thin habitus, and relatively long, thin fingers and toes. Some have scoliosis and kyphosis.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Christèle du Souich  |  F Lucy Raymond  |  Karl-Heinz Grzeschik, et. al.   view full author information

Additional descriptions

From OMIM
CHILD syndrome is an acronym for an X-linked dominant disorder characterized by congenital hemidysplasia with ichythyosiform erythrodema and limb defects. The mutations are lethal in hemizygous males (Happle et al., 1980). CK syndrome (300275), an X-linked recessive mental retardation syndrome, is an allelic disorder with a less severe phenotype.  http://www.omim.org/entry/308050
From GHR
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. ("Hemi-" means "half," and "dysplasia" refers to abnormal growth.) The right side is affected about twice as often as the left side. People with CHILD syndrome have a skin condition characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis). This condition is most likely to occur in skin folds and creases and usually does not affect the face. The skin abnormalities are present at birth and persist throughout life. CHILD syndrome also disrupts the formation of the arms and legs during early development. Children with this disorder may be born with one or more limbs that are shortened or missing. The limb abnormalities occur on the same side of the body as the skin abnormalities. Additionally, CHILD syndrome may affect the development of the brain, heart, lungs, and kidneys.  http://ghr.nlm.nih.gov/condition/congenital-hemidysplasia-with-ichthyosiform-erythroderma-and-limb-defects

Clinical features

Hydronephrosis
MedGen UID:
504353
Concept ID:
CN000122
Finding
Severe distention of the kidney with dilation of the renal pelvis and calices.
Cleft upper lip
MedGen UID:
504391
Concept ID:
CN000197
Finding
A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A `decreased magnitude` (PATO:0002018) of the `sensory perception of sound` (GO:0007605).
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.
Abnormality of the cranial nerves
MedGen UID:
428251
Concept ID:
CN001183
Finding
Abnormality affecting one or more of the `cranial nerves` (FMA:5865), which emerge directly from the brain stem.
Cerebral cortical atrophy
MedGen UID:
505113
Concept ID:
CN001920
Finding
Atrophy of the cortex of the cerebrum.
Myelomeningocele
MedGen UID:
505247
Concept ID:
CN002248
Finding
Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.
Aplasia/Hypoplasia involving the central nervous system
MedGen UID:
425118
Concept ID:
CN002693
Finding
Absence or underdevelopment of tissue in the central nervous system.
Abnormality of the thyroid gland
MedGen UID:
427840
Concept ID:
CN000767
Finding
An abnormality of the `thyroid gland` (FMA:9603).
Abnormality of the adrenal glands
MedGen UID:
427841
Concept ID:
CN000780
Finding
Abnormality of the `adrenal glands` (FMA:9604), i.e., of the endocrine glands located at the top of the kindneys.
Adrenal hypoplasia
MedGen UID:
504618
Concept ID:
CN000781
Finding
Developmental hypoplasia of the `adrenal glands` (FMA:9604).
Thyroid hypoplasia
MedGen UID:
425809
Concept ID:
CN005279
Finding
Developmental hypoplasia of the `thyroid gland` (FMA:9603).
Abnormality of the ribs
MedGen UID:
427835
Concept ID:
CN000726
Finding
An anomaly of the `rib` (FMA:7574).
Short ribs
MedGen UID:
500894
Concept ID:
CN000727
Finding
Reduced rib length.
Hypoplastic scapulae
MedGen UID:
504641
Concept ID:
CN000827
Finding
Underdeveloped `scapula` (FMA:13394).
Short clavicles
MedGen UID:
504645
Concept ID:
CN000839
Finding
Reduced length of the clavicles.
Sprengel anomaly
MedGen UID:
504649
Concept ID:
CN000854
Finding
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Myelomeningocele
MedGen UID:
505247
Concept ID:
CN002248
Finding
Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Abnormality of bone mineral density
MedGen UID:
428073
Concept ID:
CN003849
Finding
This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.
Abnormality of the epiphyses
MedGen UID:
425804
Concept ID:
CN005226
Finding
An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Vertebral hypoplasia
MedGen UID:
506220
Concept ID:
CN007405
Finding
Small, underdeveloped vertebral bodies.
Hypoplastic pelvis
MedGen UID:
506270
Concept ID:
CN007776
Finding
Underdevelopment of the `bony pelvis` (FMA:16580).
Aplasia of the pectoralis major muscle
MedGen UID:
429438
Concept ID:
CN008611
Finding
Absence of the pectoralis major muscle.
Upper limb phocomelia
MedGen UID:
447125
Concept ID:
CN008670
Finding
Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
Epiphyseal stippling
MedGen UID:
429599
Concept ID:
CN009481
Finding
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses (FMA:24012).
Amniotic constriction ring
MedGen UID:
506316
Concept ID:
CN008633
Finding
Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.
Asymmetric growth
MedGen UID:
451881
Concept ID:
CN117448
Finding
A growth pattern that displays an abnormal difference between the left and the right side.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A disorder characterized by a decrease in density of hair compared to normal for a given individual at a given age and body location.
Hyperkeratosis
MedGen UID:
504662
Concept ID:
CN000900
Finding
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.
Parakeratosis
MedGen UID:
504694
Concept ID:
CN000971
Finding
Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
Abnormality of the fingernails
MedGen UID:
446395
Concept ID:
CN001134
Finding
An abnormality of the `fingernails` (FMA:54327).
Abnormality of the nail
MedGen UID:
446417
Concept ID:
CN001454
Finding
Abnormality of the `nail` (FMA:54326).
Congenital ichthyosiform erythroderma
MedGen UID:
506069
Concept ID:
CN006510
Finding
An `ichthyosiform abnormality of the skin` (HP:0008064) with `congenital onset` (HP:0003577).
Ichthyosis
MedGen UID:
429191
Concept ID:
CN007091
Finding
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Defect in the atrial septum
MedGen UID:
504879
Concept ID:
CN001485
Finding
Atrial septal defect (ASD) is a congenital abnormality of the `interatrial septum` (FMA:7108) that enables blood flow between the left and right atria via the interatrial septum.
Abnormality of the heart valves
MedGen UID:
446421
Concept ID:
CN001506
Finding
An abnormality of a `Cardiac valve` (FMA:7110).
Abnormality of the cardiac septa
MedGen UID:
428275
Concept ID:
CN001520
Finding
An anomaly of the intra-atrial or intraventricular septum.
Malformation of the heart and great vessels
MedGen UID:
428300
Concept ID:
CN002327
Finding
Congenital malformation of the heart or great vessels (i.e., the large blood vesslesentering and leaving the heart: aorta, the pulmonary arteries and veins, and the superior and inferior vena cava).
Hypoplastic left heart
MedGen UID:
505616
Concept ID:
CN003882
Finding
Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.
Arteriovenous malformation
MedGen UID:
451420
Concept ID:
CN116925
Finding
An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Aplasia of the pectoralis major muscle
MedGen UID:
429438
Concept ID:
CN008611
Finding
Absence of the pectoralis major muscle.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.

Recent clinical studies

Etiology

Leventhal JM, Krugman RD
JAMA 2012 Jul 4;308(1):35-6. doi: 10.1001/jama.2012.6416. PMID: 22760286
Chambers PL, Mahabee-Gittens EM, Leonard AC
Pediatr Emerg Care 2011 Nov;27(11):1009-13. doi: 10.1097/PEC.0b013e318235bb4f. PMID: 22068058
Duncan AF, Caughy MO
J Child Adolesc Psychiatr Nurs 2009 Nov;22(4):228-34. doi: 10.1111/j.1744-6171.2009.00203.x. PMID: 19930304
Bittar M, Happle R
J Am Acad Dermatol 2004 Feb;50(2 Suppl):S34-7. doi: 10.1016/S0190. PMID: 14726863
Akbarnia B, Torg JS, Kirkpatrick J, Sussman S
J Bone Joint Surg Am 1974 Sep;56(6):1159-66. PMID: 4436352

Diagnosis

Knape RM, Gandhi KB, Tuli SY, Khuddus N
J Pediatr Ophthalmol Strabismus 2010 Sep 22;47 Online:e1-3. doi: 10.3928/01913913-20100920-06. PMID: 20886807
Chander R, Varghese B, Jabeen M, Garg T, Jain M
Dermatol Online J 2010 Aug 15;16(8):6. PMID: 20804683
Sugandhan S, Gupta S, Khandpur S, Khanna N, Mehta M, Inna P
Int J Dermatol 2010 Jun;49(6):679-83. doi: 10.1111/j.1365-4632.2009.04188.x. PMID: 20618475
Avgerinou GP, Asvesti AP, Katsambas AD, Nikolaou VA, Christofidou EC, Grzeschik KH, Happle R
J Eur Acad Dermatol Venereol 2010 Jun;24(6):733-6. Epub 2009 Nov 2 doi: 10.1111/j.1468-3083.2009.03483.x. [Epub ahead of print] PMID: 19906044
Duncan AF, Caughy MO
J Child Adolesc Psychiatr Nurs 2009 Nov;22(4):228-34. doi: 10.1111/j.1744-6171.2009.00203.x. PMID: 19930304

Therapy

Paller AS, van Steensel MA, Rodriguez-Martín M, Sorrell J, Heath C, Crumrine D, van Geel M, Cabrera AN, Elias PM
J Invest Dermatol 2011 Nov;131(11):2242-8. Epub 2011 Jul 14 doi: 10.1038/jid.2011.189. [Epub ahead of print] PMID: 21753784Free PMC Article
Chander R, Varghese B, Jabeen M, Garg T, Jain M
Dermatol Online J 2010 Aug 15;16(8):6. PMID: 20804683
Wong VC, Lam CW, Fung CW
Neurology 2005 Nov 8;65(9):1465-6. doi: 10.1212/01.wnl.0000183153.82651.72. PMID: 16275837
König A, Happle R, Fink-Puches R, Soyer HP, Bornholdt D, Engel H, Grzeschik KH
J Am Acad Dermatol 2002 Apr;46(4):594-6. PMID: 11907515
Pickering D
Am J Dis Child 1976 Jun;130(6):675-6. PMID: 937288

Prognosis

Leventhal JM, Krugman RD
JAMA 2012 Jul 4;308(1):35-6. doi: 10.1001/jama.2012.6416. PMID: 22760286
Hansen M, Weltzien A, Blum J, Botterill NJ, Rommens PM
Arch Orthop Trauma Surg 2008 Sep;128(9):967-72. Epub 2007 Oct 27 doi: 10.1007/s00402-007-0484-7. [Epub ahead of print] PMID: 17965868
Kim CA, Konig A, Bertola DR, Albano LM, Gattás GJ, Bornholdt D, Leveleki L, Happle R, Grzeschik KH
Dermatology 2005;211(2):155-8. doi: 10.1159/000086448. PMID: 16088165
Hummel M, Cunningham D, Mullett CJ, Kelley RI, Herman GE
Am J Med Genet A 2003 Oct 15;122A(3):246-51. doi: 10.1002/ajmg.a.20248. PMID: 12966526
Newman RS, Jalili M, Kolls BJ, Dietrich R
Am J Hematol 2002 Dec;71(4):328-30. doi: 10.1002/ajh.10225. PMID: 12447966

Clinical prediction guides

Chambers PL, Mahabee-Gittens EM, Leonard AC
Pediatr Emerg Care 2011 Nov;27(11):1009-13. doi: 10.1097/PEC.0b013e318235bb4f. PMID: 22068058
Sugandhan S, Gupta S, Khandpur S, Khanna N, Mehta M, Inna P
Int J Dermatol 2010 Jun;49(6):679-83. doi: 10.1111/j.1365-4632.2009.04188.x. PMID: 20618475
Bittar M, Happle R, Grzeschik KH, Leveleki L, Hertl M, Bornholdt D, König A
Arch Dermatol 2006 Mar;142(3):348-51. doi: 10.1001/archderm.142.3.348. PMID: 16549711
Kratz CP, Schweiger B, Kemperdick H, Göbel U
Pediatr Hematol Oncol 2003 Dec;20(8):575-7. PMID: 14578025
Happle R, Koch H, Lenz W
Eur J Pediatr 1980 Jun;134(1):27-33. PMID: 7408908

Recent systematic reviews

Barnes PD
Radiol Clin North Am 2011 Jan;49(1):205-29. doi: 10.1016/j.rcl.2010.08.001. PMID: 21111136
Case ME, Graham MA, Handy TC, Jentzen JM, Monteleone JA; National Association of Medical Examiners Ad Hoc Committee on Shaken Baby Syndrome
Am J Forensic Med Pathol 2001 Jun;22(2):112-22. PMID: 11394743
Merrick J, Browne KD
Public Health Rev 1999;27(4):279-93. PMID: 11081354
Thomasgard M, Metz WP
J Dev Behav Pediatr 1995 Feb;16(1):47-53. PMID: 7730457
Main M, Goldwyn R
Child Abuse Negl 1984;8(2):203-17. PMID: 6539642

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