Focal Dermal Hypoplasia (Syndrome, Goltz)

A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait.
Also Known As:
Syndrome, Goltz; Goltz's Syndrome; Goltz-Gorlin Syndrome; Dermal Hypoplasias, Focal; Focal Dermal Hypoplasias; Goltzs Syndrome; Gorlin Syndrome, Goltz; Hypoplasia, Focal Dermal; Hypoplasias, Focal Dermal; Syndrome, Goltz Gorlin; Syndrome, Goltz's; Syndrome, Goltz-Gorlin; Dermal Hypoplasia, Focal; Goltz Gorlin Syndrome; Goltz Syndrome
Networked: 44 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Focal Dermal Hypoplasia (Syndrome, Goltz)
2. Pentalogy of Cantrell
3. Incontinentia Pigmenti (Bloch Sulzberger Syndrome)
4. Umbilical Hernia (Omphalocele)
5. Ectodermal Dysplasia (Aplasia Cutis Congenita)


1. Hennekam, Raoul C: 2 articles (07/2011 - 05/2011)
2. Lombardi, Maria Paola: 2 articles (07/2011 - 05/2011)
3. Smigiel, Robert: 2 articles (07/2011 - 05/2011)
4. Roy, Sutirtha: 1 article (03/2015)
5. Sarkar, Shatanik: 1 article (03/2015)
6. Patra, Chaitali: 1 article (03/2015)
7. Das, Amit: 1 article (03/2015)
8. Hirano, Stefanie A: 1 article (07/2012)
9. Williams, Judith V: 1 article (07/2012)
10. Mason, Ashley R: 1 article (07/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Focal Dermal Hypoplasia:
1. syndromic 7 MicrophthalmiaIBA
2. Oculocerebrocutaneous syndromeIBA
3. EctrodactylyIBA
4. Mesoectodermal dysplasiaIBA
5. Hypohidrotic Ectodermal DysplasiaIBA
6. Encephalocraniocutaneous lipomatosisIBA
7. Wnt ProteinsIBA
8. Nonsense Codon (Nonsense Mutation)IBA
9. Valproic acid antenatal infectionIBA
05/15/2008 - "These included patients with chromosomal abnormalities (25, 29.0%); non-chromosomal syndromes including Beckwith-Wiedemann syndrome, Goltz syndrome, Marshall-Smith syndrome, Meckel-Gruber syndrome, Oto-palato-digital type II syndrome, CHARGE syndrome, and fetal valproate syndrome; malformation sequences, including ectopia cordis, body stalk anomaly, exstrophy of bladder, exstrophy of cloaca, and OEIS (Omphalocele, Exstrophy of bladder, Imperforate anus, Spinal defect); malformation complexes including Pentalogy of Cantrell, and non-syndromic multiple congenital anomalies (MCA) (26, 30.2%). "
06/01/2007 - "This article provides a comprehensive review of omphalocele-related disorders: otopalatodigital syndrome type II; Melnick-Needles syndrome; Rieger syndrome; neural tube defects; Meckel syndrome; Shprintzen-Goldberg omphalocele syndrome; lethal omphalocele-cleft palate syndrome; cerebro-costo-mandibular syndrome; fetal valproate syndrome; Marshall-Smith syndrome; fibrochondrogenesis; hydrolethalus syndrome; Fryns syndrome; omphalocele, diaphragmatic defects, radial anomalies and various internal malformations; diaphragmatic defects, limb deficiencies and ossification defects of skull; Donnai-Barrow syndrome; CHARGE syndrome; Goltz syndrome; Carpenter syndrome; Toriello-Carey syndrome; familial omphalocele; Cornelia de Lange syndrome; C syndrome; Elejalde syndrome; Malpuech syndrome; cervical ribs, Sprengel anomaly, anal atresia and urethral obstruction; hydrocephalus with associated malformations; Kennerknecht syndrome; lymphedema, atrial septal defect and facial changes; and craniosynostosismental retardation syndrome of Lin and Gettig. "
10. Ectrodactyly-cleft lip/palate syndromeIBA

Therapies and Procedures

1. Photochemotherapy (Photodynamic Therapy)
2. Airway Management
3. Dental Care
4. Curettage
5. Bone Nails