The differential diagnosis of focal dermal hypoplasia (Goltz) syndrome includes autosomal recessive Setleis syndrome due to TWIST2 gene mutations. (wikipedia.org)
Goltz syndrome is a very rare diagnosis. (wikipedia.org)
The eponyms of focal dermal hypoplasia should not to be confused with Gorlin syndrome or Gorlin-Goltz syndrome, which is the nevoid basal cell carcinoma syndrome . (medscape.com)
Focal dermal hypoplasia is also known as Goltz syndrome or Goltz-Gorlin syndrome. (medscape.com)
Goltz syndrome (focal dermal hypoplasia), a very rare syndrome that predominates in girls, is characterized by various ectodermal and mesodermal abnormalities. (tripod.com)
CHILD syndrome (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) is a very rare syndrome. (tripod.com)
Radiographs showed asymmetrical hypoplasia of the middle and terminal phalanges and there were no extra-articular findings to suggest Sorsby syndrome. (lookfordiagnosis.com)
Kabuki make-up syndrome is a rare dysmorphogenic disorder characterized by peculiar facial appearance (resembling the make-up of actors in Kabuki, the traditional Japanese theatre), skeletal anomalies, dermatoglyphic abnormalities, postnatal growth deficiency, and mental retardation. (lookfordiagnosis.com)
Focal dermal hypoplasia has been associated with PORCN gene mutations on the X chromosome. (wikipedia.org)
The focal dermal hypoplasia (FDH) genetic defect has been associated with at least 80 different mutations in the PORCN gene of the X chromosome (Xp11.23). (medscape.com)
Studies indicate that focal dermal hypoplasia (FDH) is usually caused by mutations of the PORCN gene, mapped to locus Xp11.23. (medscape.com)
Although biochemical functions of the human PORCN gene are not well characterized, Wnt signaling may be involved in the phenotypic expression of focal dermal hypoplasia where defective/deficient Wnt signaling could affect cell fate or result in failure of a progenitor cell line to expand. (medscape.com)
Congenital5
Split Hand-Foot Malformation (SHFM) is a congenital limb defect characterized by a median cleft of the hands and/or feet due to the absence/hypoplasia of the central rays. (bvsalud.org)
Focal congenital lipoatrophy: minimal growth hemangioma or malformation? (ejpd.com)
INTRODUCTION Monogenic genetic disorders constitute a very large group of rare conditions, many of which are characterized by the presence of congenital malformation. (docksci.com)
Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. (bvsalud.org)
:558 ) is a rare congenital disease of the skin caused by a mutation in the KIND1 gene. (en-academic.com)
We report 3 non related patients with severe hypoplasia/aplasia of the thumb with an ipsilateral synostosis of the fourth and fifth metacarpals. (lookfordiagnosis.com)
Disorder9
Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. (medlineplus.gov)
Focal dermal hypoplasia (FDH) is an uncommon genetic disorder affecting tissues of ectodermal and mesodermal origin. (medscape.com)
Focal dermal hypoplasia (FDH) is an uncommon disorder. (medscape.com)
Focal dermal hypoplasia is an uncommon but not rare disorder. (medscape.com)
Background: Pemphigus vulgaris is a rare autoimmune disorder characterized by cutaneous and mucosal blistering. (iranjd.ir)
Progressive osseous heteroplasia (POH) is a rare disorder characterized by dermal ossification beginning in infancy followed by increasing and extensive bone formation in deep muscle and fascia . (lookfordiagnosis.com)
Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. (beds.ac.uk)
Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment , branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. (nih.gov)
A rare, slowly progressive disorder of myelin formation. (uams.edu)
Defects1
The severity of defects in focal dermal hypoplasia is variable, and this variability is due to random X-chromosome inactivation (lyonization) within cells. (medscape.com)
Abnormalities4
People with focal dermal hypoplasia have skin abnormalities present from birth, such as streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent (cutis aplasia), small clusters of veins on the surface of the skin (telangiectases), and streaks of slightly darker or lighter skin. (medlineplus.gov)
Eye abnormalities are common in individuals with focal dermal hypoplasia, including small eyes ( microphthalmia ), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. (medlineplus.gov)
About half of individuals with focal dermal hypoplasia have abnormalities of their teeth, especially the hard, white material that forms the protective outer layer of each tooth (enamel). (medlineplus.gov)
Focal dermal hypoplasia is a form of ectodermal dysplasia. (wikipedia.org)
Autosomal1
Familial koilonychia is rare and inherited in an autosomal dominant manner. (logicalimages.com)
Disease3
Please note that NORD provides this information for the benefit of the rare disease community. (rarediseases.org)
In the rare disease erythropoietic protoporphyria , haploinsufficiency for ferrochelatase ( FECH ) contributes to the clinical phenotype but is not the only reason for the disease expression. (dorak.info)
230) cause junctional epidermolysis bullosa (JEB), a rare, genetically heterogeneous, mucocutaneous blistering disease with amelogenesis imperfecta (AI), a developmental enamel defect. (bmj.com)
Monogenic genetic disorders constitute a very large group of rare conditions, each of which is defined by a characteristic combination of phenotypic features. (docksci.com)
Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. (findzebra.com)
Cases3
In brackets changes identified in single or rare cases. (geneskin.org)
Please note that, in rare cases, mitochondrial genome (mtDNA) variants may not be detectable in blood or saliva in which case DNA extracted from post-mitotic tissue such as skeletal muscle may be a better option. (blueprintgenetics.com)
If you send in a sample of a foal, it is recommended to use tail hairs, since the mane hairs could be contaminated with DNA from the mother's mare in rare cases. (labogen.com)
Skin1
One instance of large aplasia cutis congenita associated with exposed neurological structures showed surgical success with an acellular dermal matrix/skin graft construct to promote soft and bony tissue regeneration. (medscape.com)
Diseases1
Epidermolysis bullosa is a group of 4 very rare genetic diseases and their subtypes. (msdmanuals.com)
Fibroblasts1
Using fibroblasts from patients with a rare genetic defect called Focal Dermal Hypoplasia (FDH), we were able to demonstrate that Wnt signaling is required during the process of reprogramming. (ca.gov)
Variable1
The AI phenotype was consistent with enamel of near normal thickness and variable focal hypoplasia with surface irregularities including pitting. (bmj.com)
Focal dermal hypoplasia is present at birth but may evolve thereafter and, in mildly affected individuals, may be recognized only later in life. (medscape.com)