| Conradi–Hünermann syndrome |
| Classification and external resources |
| Specialty |
medical genetics |
| ICD-10 |
Q77.3 |
| ICD-9-CM |
756.59 |
| OMIM |
302960 |
| DiseasesDB |
32527 |
Conradi–Hünermann syndrome (also known as "Conradi–Hünermann–Happle syndrome",[1]:500 "Happle syndrome,"[2] and "X-linked dominant chondrodysplasia punctata"[2]) is a type of chondrodysplasia punctata. It is associated with the gene EBP (gene)[3][4] and affects between one in 100,000 and one in 200,000 babies.
Contents
- 1 Description
- 2 Symptoms
- 3 Treatment
- 4 Other name
- 5 See also
- 6 References
- 7 External links
Description
Conradi–Hünermann syndrome is a form of chondrodysplasia punctata, a group of rare genetic disorders of skeletal development involving abnormal accumulations of calcium salts within the growing ends of long bones. Conradi–Hünermann syndrome is commonly associated with mild to moderate growth deficiency, disproportionate shortening of long bones, particularly those of the upper arms and the thigh bones, short stature, and/or curvature of the spine. In rare cases, intellectual disability may also be present. While evidence suggests that Conradi–Hünermann syndrome predominantly occurs in females and is usually inherited as an X-linked dominant trait, rare cases in which males were affected have also been reported.
The genetics of Conradi–Hünermann syndrome has perplexed medical geneticists, pediatricians and dermatologists for some time, but a number of perplexing features of the genetics of the syndrome have now been resolved, including the fact that the disease is caused by mutations in a gene, and these mutations are simple substitutions, deletions or insertions and are therefore not "unstable". Scientists are still trying to understand exactly where the mutation occurs so that they can correct it.
Symptoms
Possible symptoms include
- Growth deficiency
- Low nasal bridge
- Flat face
- Down-slanting space between eyelids
- Cataracts
- Asymmetric limb shortness
- Joint shortening or spasms
- Frequent scoliosis
- Frequent kyphosis
- Abnormal redness of the skin
- Thick scales on infant skin
- Large skin pores
- Flaky Skin
- Sparse hair
- Coarse hair
- Bald spots/ Alopecia
- Ichthyosis
Treatment
Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital. Other symptoms can be treated with medicine or surgery. Most female patients with the syndrome can live a long and normal life, while males have only survived in rare cases.
Other name
It is also known as Happle's syndrome, after the German Physician, Rudolf Happle (b. 1938), who wrote a series of papers about the disease in 1976.
The name Conradi-Hünermann Syndrome is named for Erich Conradi (1882–1968), and Carl (Karl) Hünermann (1904–1978), both are German Physicians.
See also
- Chondrodysplasia punctata
- Fetal warfarin syndrome
- List of cutaneous conditions
- List of radiographic findings associated with cutaneous conditions
References
- ^ Thomas Bernard Fitzpatrick; Irwin M. Freedberg (2003). Fitzpatrick's Dermatology in General Medicine. ISBN 978-0-07-138076-8.
- ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L.; Joseph L. Jorizzo; Ronald P. Rapini (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ Ausavarat S, Tanpaiboon P, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V (2008). "Two novel EBP mutations in Conradi–Hünermann–Happle syndrome". Eur J Dermatol 18 (4): 391–3. doi:10.1684/ejd.2008.0433. PMID 18573709.
- ^ Steijlen PM, van Geel M, Vreeburg M et al. (December 2007). "Novel EBP gene mutations in Conradi–Hünermann–Happle syndrome". Br. J. Dermatol. 157 (6): 1225–9. doi:10.1111/j.1365-2133.2007.08254.x. PMID 17949453.
External links
- GeneReviews/NCBI/NIH/UW entry on Chondrodysplasia Punctata 2, X-Linked, Conradi–Hünermann Syndrome, Happle Syndrome
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Osteochondrodysplasia (Q77–Q78, 756.4–756.5)
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Osteodysplasia//
osteodystrophy |
| Diaphysis |
- Camurati–Engelmann disease
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| Metaphysis |
- Metaphyseal dysplasia
- Jansen's metaphyseal chondrodysplasia
- Schmid metaphyseal chondrodysplasia
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| Epiphysis |
- Spondyloepiphyseal dysplasia congenita
- Multiple epiphyseal dysplasia
- Otospondylomegaepiphyseal dysplasia
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| Osteosclerosis |
- Raine syndrome
- Osteopoikilosis
- Osteopetrosis
|
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| Other/ungrouped |
- FLNB
- Opsismodysplasia
- Polyostotic fibrous dysplasia
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Chondrodysplasia/
chondrodystrophy
(including dwarfism) |
| Osteochondroma |
- osteochondromatosis
- Hereditary multiple exostoses
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| Chondroma/enchondroma |
- enchondromatosis
- Ollier disease
- Maffucci syndrome
|
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| Growth factor receptor |
| FGFR2: |
|
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| FGFR3: |
- Achondroplasia
- Thanatophoric dysplasia
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| COL2A1 collagen disease |
- Achondrogenesis
- Hypochondrogenesis
|
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| SLC26A2 sulfation defect |
- Achondrogenesis
- Autosomal recessive multiple epiphyseal dysplasia
- Atelosteogenesis, type II
- Diastrophic dysplasia
|
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| Chondrodysplasia punctata |
- Rhizomelic chondrodysplasia punctata
- Conradi–Hünermann syndrome
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| Other dwarfism |
- Fibrochondrogenesis
- Short rib – polydactyly syndrome
- Majewski's polydactyly syndrome
- Léri–Weill dyschondrosteosis
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Index of bones and cartilage
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| Description |
- Anatomy
- bones
- skull
- face
- neurocranium
- compound structures
- foramina
- upper extremity
- torso
- pelvis
- lower extremity
- Physiology
- Development
- Cells
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| Disease |
- Congenital
- Neoplasms and cancer
- Trauma
- Other
- Symptoms and signs
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| Treatment |
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Sex linkage: X-linked disorders
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X-linked recessive
|
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| Immune |
- Chronic granulomatous disease (CYBB)
- Wiskott–Aldrich syndrome
- X-linked severe combined immunodeficiency
- X-linked agammaglobulinemia
- Hyper-IgM syndrome type 1
- IPEX
- X-linked lymphoproliferative disease
- Properdin deficiency
|
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| Hematologic |
- Haemophilia A
- Haemophilia B
- X-linked sideroblastic anemia
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| Endocrine |
- Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy
- KAL1 Kallmann syndrome
- X-linked adrenal hypoplasia congenita
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| Metabolic |
- Amino acid: Ornithine transcarbamylase deficiency
- Oculocerebrorenal syndrome
- Dyslipidemia: Adrenoleukodystrophy
- Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency
- Pyruvate dehydrogenase deficiency
- Danon disease/glycogen storage disease Type IIb
- Lipid storage disorder: Fabry's disease
- Mucopolysaccharidosis: Hunter syndrome
- Purine-pyrimidine metabolism: Lesch–Nyhan syndrome
- Mineral: Menkes disease/Occipital horn syndrome
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| Nervous system |
- X-linked mental retardation: Coffin–Lowry syndrome
- MASA syndrome
- X-linked alpha thalassemia mental retardation syndrome
- Siderius X-linked mental retardation syndrome
- Eye disorders: Color blindness (red and green, but not blue)
- Ocular albinism (1)
- Norrie disease
- Choroideremia
- Other: Charcot–Marie–Tooth disease (CMTX2-3)
- Pelizaeus–Merzbacher disease
- SMAX2
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| Skin and related tissue |
- Dyskeratosis congenita
- Hypohidrotic ectodermal dysplasia (EDA)
- X-linked ichthyosis
- X-linked endothelial corneal dystrophy
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| Neuromuscular |
- Becker's muscular dystrophy/Duchenne
- Centronuclear myopathy (MTM1)
- Conradi–Hünermann syndrome
- Emery–Dreifuss muscular dystrophy 1
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| Urologic |
- Alport syndrome
- Dent's disease
- X-linked nephrogenic diabetes insipidus
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| Bone/tooth |
- AMELX Amelogenesis imperfecta
|
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| No primary system |
- Barth syndrome
- McLeod syndrome
- Smith–Fineman–Myers syndrome
- Simpson–Golabi–Behmel syndrome
- Mohr–Tranebjærg syndrome
- Nasodigitoacoustic syndrome
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X-linked dominant
|
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- X-linked hypophosphatemia
- Focal dermal hypoplasia
- Fragile X syndrome
- Aicardi syndrome
- Incontinentia pigmenti
- Rett syndrome
- CHILD syndrome
- Lujan–Fryns syndrome
- Orofaciodigital syndrome 1
- Craniofrontonasal dysplasia
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Inborn error of steroid metabolism
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| Mevalonate pathway |
- Hyper-IgD syndrome
- Mevalonate kinase deficiency
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| To cholesterol |
- 7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
- CHILD syndrome
- Conradi-Hünermann syndrome
- Lathosterolosis
- Smith-Lemli-Opitz syndrome
- desmosterol path: Desmosterolosis
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| Steroids |
Corticosteroid
(including CAH) |
- aldosterone: Glucocorticoid remediable aldosteronism
- cortisol/cortisone: CAH 17α hydroxylase
- CAH 11β hydroxylase
- both: CAH 3β dehydrogenase
- CAH 21α hydroxylase
- Apparent mineralocorticoid excess syndrome/11β dehydrogenase
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| Sex steroid |
| To androgens |
- 17-beta-hydroxysteroid dehydrogenase deficiency
- 5-alpha-reductase deficiency
- Pseudovaginal perineoscrotal hypospadias
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| To estrogens |
- Aromatase deficiency
- Aromatase excess syndrome
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| Other |
- X-linked ichthyosis
- Antley-Bixler syndrome
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Index of inborn errors of metabolism
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| Description |
- Metabolism
- Enzymes and pathways: citric acid cycle
- pentose phosphate
- glycoproteins
- glycosaminoglycans
- phospholipid
- cholesterol and steroid
- sphingolipids
- eicosanoids
- amino acid
- urea cycle
- nucleotide
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| Disorders |
- Citric acid cycle and electron transport chain
- Glycoprotein
- Proteoglycan
- Fatty-acid
- Phospholipid
- Cholesterol and steroid
- Eicosanoid
- Amino acid
- Purine-pyrimidine
- Heme metabolism
- Symptoms and signs
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| Treatment |
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Index of hormones
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| Description |
- Glands
- Hormones
- thyroid
- mineralocorticoids
- Physiology
- Development
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| Disease |
- Diabetes
- Congenital
- Neoplasms and cancer
- Other
- Symptoms and signs
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| Treatment |
- Procedures
- Drugs
- calcium balance
- corticosteroids
- oral hypoglycemics
- pituitary and hypothalamic
- thyroid
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