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)
It may be associated with Ellis-van Creveld syndrome or chromosomal anomalies. (neonatologybook.com)
It may be an isolated anomaly or associated with chromosomal or genetic disorders (eg, trisomy 21,13,18, Silver syndrome, Prader-Willi syndrome, or focal dermal hypoplasia). (neonatologybook.com)
additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). (beds.ac.uk)
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)
Septo-optic dysplasia (SOD) , also known as de Morsier syndrome , is a condition characterized by optic nerve hypoplasia and absence of the septum pellucidum and, in two-thirds of patients hypothalamic-pituitary dysfunction . (radiopaedia.org)
Defects2
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)
Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. (nih.gov)
Skeletal1
Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. (beds.ac.uk)
Brain anomalies1
and commonly, mild-to-severe intellectual disability with or without structural brain anomalies. (nih.gov)
Renal1
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)
Genetic4
Focal dermal hypoplasia (FDH) is an uncommon genetic disorder affecting tissues of ectodermal and mesodermal origin. (medscape.com)
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)
A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. (bvsalud.org)
Genetic counseling should be considered if associated anomalies are noted. (medscape.com)
Phenotypic1
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)
Deficient1
The EDA deficient mouse has Zymbal's gland hypoplasia and acute otitis externa. (kyoto-u.ac.jp)
Uncommon2
Focal dermal hypoplasia (FDH) is an uncommon disorder. (medscape.com)
Focal dermal hypoplasia is an uncommon but not rare disorder. (medscape.com)
Disorder1
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)
Lesions1
He has been referred to our vascular anomalies reference center at 14 years of age due to the increasing in color intensity of the lesions and the recent onset of new macules on the left forearm. (biomedcentral.com)
Postaxial1
Hand anomalies can include large hands and postaxial polydactyly. (nih.gov)
Embryonic1
The rat Downunder (Du) coat color mutation is associated with eye anomalies and embryonic lethality and maps to a 3.9-Mb region on chromosome 3. (kyoto-u.ac.jp)
Ocular2
These ocular anomalies were isolated in one case (1/479, 0.2%) and multiple anomalies were found in the other cases. (bvsalud.org)
Long-term visual disorders have been described, with no possible improvement and even a worsening of some of the ocular anomalies previously observed. (bvsalud.org)
Tissues1
Tissues in which cells select for the defective PORCN gene show anomalies. (medscape.com)
Vascular3
Angioma serpiginosum is a rare vascular anomaly whose pathogenesis is still unknown. (biomedcentral.com)
This entity has not yet been included in the classification of the International Society for the Study of Vascular Anomalies. (biomedcentral.com)
The serpiginous appearance is due to peripheral extension together with clearing of the central part of the vascular anomaly. (biomedcentral.com)
Neonates with short limbs may have a variety of conditions including fibular hemimelia, proximal focal femoral deficiency (PFFD) or tibial hemimelia. (neonatologybook.com)
Absence1
brachydactyly type B has classically been described as hypoplasia or absence of the terminal phalanges with absent nails . (lookfordiagnosis.com)
A tuft of hair over the neonate s lumbosacral spine or skin dimple may be a sign of underlying anomalies. (neonatologybook.com)
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)
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)
Patients1
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)
Type1
Although other digital anomalies have previously been described with brachydactyly type B, the absent digit, atypical syndactyly and marked asymmetry in this child make this case a good illustration of the clinical heterogeneity that can be associated with this type of brachdactyly. (lookfordiagnosis.com)