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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 production of the same or similar phenotypes (observed biochemical, physiological, and morphological characteristics of a person determined by his/her genotype) by different genetic mechanisms. There are two types: (1) allelic heterogeneity - when different alleles at a locus can produce variable expression of a condition; and (2) locus heterogeneity - the term used to describe disease in which mutations at different loci can produce the same disease phenotype.
x-linked dominant
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 (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

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.
Abnormality of cardiovascular system morphology
MedGen UID:
892473
Concept ID:
C4049796
Congenital Abnormality
Any structural anomaly of the heart and great vessels.
Thyroid hypoplasia
MedGen UID:
57720
Concept ID:
C0151516
Disease or Syndrome
Developmental hypoplasia of the thyroid gland.
Adrenal hypoplasia
MedGen UID:
337539
Concept ID:
C1846223
Finding
Developmental hypoplasia of the adrenal glands.
short extremities
MedGen UID:
116086
Concept ID:
C0239399
Finding
Absence (due to failure to form) or underdevelopment of the extremities.
Aplasia/Hypoplasia involving the central nervous system
MedGen UID:
871188
Concept ID:
C4025665
Finding
Absence or underdevelopment of tissue in the central nervous system.
Contracture
MedGen UID:
3227
Concept ID:
C0009917
Acquired 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.
Contracture
MedGen UID:
3227
Concept ID:
C0009917
Acquired 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.
short extremities
MedGen UID:
116086
Concept ID:
C0239399
Finding
Absence (due to failure to form) or underdevelopment of the extremities.
Epiphyseal stippling
MedGen UID:
349104
Concept ID:
C1859126
Anatomical Abnormality
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses (FMA:24012).
Cleft upper lip
MedGen UID:
892653
Concept ID:
C4020893
Anatomical Abnormality
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Contracture
MedGen UID:
3227
Concept ID:
C0009917
Acquired 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
Anatomical Abnormality
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. .
Nail disease
MedGen UID:
10171
Concept ID:
C0027339
Disease or Syndrome
Your toenails and fingernails protect the tissues of your toes and fingers. They are made up of layers of a hardened protein called keratin, which is also in your hair and skin. The health of your nails can be a clue to your overall health. Healthy nails are usually smooth and consistent in color. Specific types of nail discoloration and changes in growth rate can be signs of lung, heart, kidney, and liver diseases, as well as diabetes and anemia. White spots and vertical ridges are harmless. Nail problems that sometimes require treatment include. -Bacterial and fungal infections. -Ingrown nails. -Tumors. -Warts. Keeping your nails clean, dry, and trimmed can help you avoid some problems. Do not remove the cuticle, which can cause infection.

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: 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
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: 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
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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