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Child syndrome

MedGen UID:
82697
Concept ID:
C0265267
Disease or Syndrome
Synonyms: Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects; Ichthyosis, CHILD syndrome; NSDHL-Related Disorders
Modes of inheritance:
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
X-linked dominant inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: Child syndrome (17608003)
 
Gene (location): NSDHL (Xq28)
OMIM®: 308050
Orphanet: ORPHA139

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, 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]
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.  https://ghr.nlm.nih.gov/condition/congenital-hemidysplasia-with-ichthyosiform-erythroderma-and-limb-defects

Clinical features

Thyroid hypoplasia
MedGen UID:
57720
Concept ID:
C0151516
Disease or Syndrome
Developmental hypoplasia of the thyroid gland.
Small adrenal gland
MedGen UID:
83342
Concept ID:
C0342491
Finding
Developmental hypoplasia of the adrenal glands.
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER.
Renal hypoplasia/aplasia
MedGen UID:
387822
Concept ID:
C1857453
Finding
Absence or underdevelopment of the kidney.
Dysplasia of acetabulum
MedGen UID:
9258
Concept ID:
C0019555
Congenital Abnormality
The presence of developmental dysplasia of the hip.
short extremities
MedGen UID:
116086
Concept ID:
C0239399
Finding
Absence (due to failure to form) or underdevelopment of the extremities.
Congenital septal defect
MedGen UID:
6752
Concept ID:
C0018816
Disease or Syndrome
Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left and the right chambers of the heart. The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both.
Single ventricle
MedGen UID:
56289
Concept ID:
C0152424
Congenital Abnormality
An umbrella term used to describe several very different complex congenital heart defects that share the same problem: the heart has only one functional ventricle (anatomically right or left or indeterminate) supplying the systemic circulation. These defects include tricuspid atresia, hypoplastic left or right heart syndrome, double outlet right ventricle, double inlet left ventricle, and other forms of single ventricle defects.
Abnormality of cardiovascular system morphology
MedGen UID:
892473
Concept ID:
C4049796
Congenital Abnormality
Any structural anomaly of the heart and great vessels.
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.
Mild intrauterine growth retardation
MedGen UID:
374360
Concept ID:
C1840006
Finding
Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Disease or Syndrome
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Hearing impairment
MedGen UID:
5453
Concept ID:
C0018772
Finding
A decreased magnitude of the sensory perception of sound.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Aplasia/Hypoplasia involving the central nervous system
MedGen UID:
871188
Concept ID:
C4025665
Finding
Absence or underdevelopment of tissue in the central nervous system.
Pulmonary hypoplasia
MedGen UID:
78574
Concept ID:
C0265783
Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER.
Renal hypoplasia/aplasia
MedGen UID:
387822
Concept ID:
C1857453
Finding
Absence or underdevelopment of the kidney.
Flexion contracture
MedGen UID:
3227
Concept ID:
C0009917
Anatomical Abnormality
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.
Elevated 8-dehydrocholesterol
MedGen UID:
333461
Concept ID:
C1840013
Finding
Elevated 8(9)-cholestenol
MedGen UID:
327010
Concept ID:
C1840014
Finding
Flexion contracture
MedGen UID:
3227
Concept ID:
C0009917
Anatomical Abnormality
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.
Dysplasia of acetabulum
MedGen UID:
9258
Concept ID:
C0019555
Congenital Abnormality
The presence of developmental dysplasia of the hip.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Scoliosis
MedGen UID:
21278
Concept ID:
C0037932
Finding
The presence of an abnormal lateral curvature of the spine.
short extremities
MedGen UID:
116086
Concept ID:
C0239399
Finding
Absence (due to failure to form) or underdevelopment of the extremities.
Vertebral hypoplasia
MedGen UID:
87502
Concept ID:
C0345394
Congenital Abnormality
Small, underdeveloped vertebral bodies.
Short clavicles
MedGen UID:
96529
Concept ID:
C0426799
Congenital Abnormality
Reduced length of the clavicles.
Short ribs
MedGen UID:
98094
Concept ID:
C0426817
Finding
Reduced rib length.
Hypoplastic scapulae
MedGen UID:
337579
Concept ID:
C1846434
Finding
Underdeveloped scapula.
Epiphyseal stippling
MedGen UID:
349104
Concept ID:
C1859126
Finding
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses (FMA:24012).
Hypoplastic pelvis
MedGen UID:
760700
Concept ID:
C3536734
Anatomical Abnormality
Underdevelopment of the bony pelvis.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Cleft upper lip
MedGen UID:
892653
Concept ID:
C4020893
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Flexion contracture
MedGen UID:
3227
Concept ID:
C0009917
Anatomical Abnormality
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.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Disease or Syndrome
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
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. .
Parakeratosis
MedGen UID:
10572
Concept ID:
C0030436
Disease or Syndrome
Persistence of the nuclei of the keratinocytes into the stratum corneum of the skin. This is a normal state only in the epithelium of true mucous membranes in the mouth and vagina. (Dorland, 27th ed)
Congenital ichthyosiform erythroderma
MedGen UID:
86936
Concept ID:
C0079583
Disease or Syndrome
An ichthyosiform abnormality of the skin with congenital onset.
Abnormality of the nail
MedGen UID:
163115
Concept ID:
C0853087
Finding
Abnormality of the nail.
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.
Thyroid hypoplasia
MedGen UID:
57720
Concept ID:
C0151516
Disease or Syndrome
Developmental hypoplasia of the thyroid gland.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Child syndrome in Orphanet.

Recent clinical studies

Etiology

Mi XB, Luo MX, Guo LL, Zhang TD, Qiu XW
Pediatr Dermatol 2015 Nov-Dec;32(6):e277-82. Epub 2015 Oct 13 doi: 10.1111/pde.12701. PMID: 26459993
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: 22068058Free PMC Article
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
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

Diagnosis

Mi XB, Luo MX, Guo LL, Zhang TD, Qiu XW
Pediatr Dermatol 2015 Nov-Dec;32(6):e277-82. Epub 2015 Oct 13 doi: 10.1111/pde.12701. PMID: 26459993
Knöfler R, Lohse J, Stächele J, Heilmann A, Schwier F, Schmidt U, Erfurt C
Hamostaseologie 2014;34 Suppl 1:S53-6. doi: 10.5482/HAMO-14-02-0011. PMID: 25382772
Gantner S, Rütten A, Requena L, Gassenmaier G, Landthaler M, Hafner C
J Cutan Pathol 2014 Oct;41(10):787-90. Epub 2014 Oct 18 doi: 10.1111/cup.12377. PMID: 25093865
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
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. PMID: 19906044

Therapy

Alexopoulos A, Kakourou T
Pediatr Dermatol 2015 Jul-Aug;32(4):e145-7. Epub 2015 Apr 6 doi: 10.1111/pde.12587. PMID: 25845514
Christiansen AG, Koppelhus U, Sommerlund M
Acta Derm Venereol 2015 Jul;95(6):752-3. doi: 10.2340/00015555-2044. PMID: 25587692
Liu T, Qian G, Wang XX, Zhang YG
Acta Derm Venereol 2015 Jan;95(1):91-2. doi: 10.2340/00015555-1859. PMID: 24696032
Chander R, Varghese B, Jabeen M, Garg T, Jain M
Dermatol Online J 2010 Aug 15;16(8):6. PMID: 20804683
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

Prognosis

Gantner S, Rütten A, Requena L, Gassenmaier G, Landthaler M, Hafner C
J Cutan Pathol 2014 Oct;41(10):787-90. Epub 2014 Oct 18 doi: 10.1111/cup.12377. PMID: 25093865
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. 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

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: 22068058Free PMC Article
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
Salehi-Had H, Brandt JD, Rosas AJ, Rogers KK
Pediatrics 2006 May;117(5):e1039-44. doi: 10.1542/peds.2005-0811. PMID: 16651283
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

Recent systematic reviews

Hime NJ, Zurynski Y, Fitzgerald D, Selvadurai H, Phu A, Deverell M, Elliott EJ, Jaffe A
Pediatr Pulmonol 2015 Dec;50(12):1383-92. Epub 2015 Apr 30 doi: 10.1002/ppul.23183. PMID: 25931270
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

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