Diagnosis Focal dermal hypoplasia (Goltz syndrome). Multiple defects of extremities. Left leg: the rudiment of the foot is attached to fibula ( to the minor shin bone).The big toe grows separately and is attached to the side of tibiax (to the major shin bone).[The girl actually steps on the end of the major shin bone covered with tissues and skin, while the foot is only used for additional balance.] Right leg: hip and shin are shorter than on the other leg, syndactyly of toes. Left arm: 1 cm longer than the other one, olygodactyly, split hand(4 fingers, so-called lobster claw hand); Right arm: syndactyly of second and third fingers, ankylosis of 5th finger, contracture of 3rd and 4th fingers. Spine normal. Microcephalia Multiple vessel net over the body. Eyes: 10% of normal sight. Coloboma horioidea, coloboma of disk of visual nerve, coloboma of iris at 6 o'clock, microophthalmia. The right eye is slightly bigger. Permanent conjunctivitis. Internal organs: double size left kidney, cyst in the area of coccyx.

Focal dermal hypoplasia is inherited as an X-linked dominant with in utero lethality in males. The features include atrophy and linear pigmentation of the skin, herniation of fat through the dermal defects, and multiple papillomas of the mucous membranes or skin. In addition, digital anomalies consist of syndactyly, polydactyly, camptodactyly, and absence deformities. Oral anomalies, in addition to lip papillomas, include hypoplastic teeth. Ocular anomalies (coloboma of iris and choroid, strabismus, microphthalmia) have also been present in some cases. Mental retardation occurs in many of the patients. Striated bones are probably a nearly constant feature

Synonyms Combined Mesoectodermal Dysplasia DHOF Ectodermal and Mesodermal Dysplasia with Osseous Involvement Ectodermal and Mesodermal Dysplasia, Congenital FDH Focal Dermal Dysplasia Syndrome Focal Dermato-Phalangeal Dysplasia FODH Goltz Syndrome Goltz-Gorlin Syndrome Focal Dermal Hypoplasia is a rare form of ectodermal dysplasia that is thought to be inherited as an X-linked dominant genetic trait with lethality in males. It is found primarily in females. This disorder is characterized by skin abnormalities in which there are underdeveloped areas of skin that form streaks or lines and tumor-like herniations of fat on the skin. Skeletal, facial, dental, ocular and soft tissue defects are also present.

Focal dermal hypoplasia is an example of an X-linked inherited condition. Women have two X chromosomes, and men have an X and a Y chromosome. As with all genetic conditions it may have arisen spontaneously through mutation. I think that you are confusing gene with chromosome. The genes lie on the chromosome, in this case on the X chromosome. In all X-linked inherited conditions the clinical risk and severity of diseases is different for each sex. A female has 2 X chromosomes, and so may only have the offending gene on one of them (heterozygous), or on both X chromosomes (homozygous). If she only has the gene on one chromosome, then she will pass it to some, but not all of her children. If she has the gene on both chromosomes, then she will pass it to all her male children, and all her female children will carry the gene. Men only have one X chromosome, so if they inherit the gene they will display the full range of symptoms of an X-linked genetic disorder. In all X-linked inherited disorders there is no male to male transmission. This is because a man must pass his Y chromosome to his sons, so he can never contribute his X chromosome. That must come from the mother. On the other hand, a man always contributes his one X chromosome to all his daughters. Focal dermal hypoplasia is an example of a so-called X-linked dominant characterstic in which the gene is lethal in males. The disorder only occurs in women who are heterozygous for the mutant gene, an affected mother transmits the characteristic to half of her daughters, and an increased frequency of miscarriage occurs in affected women, the aborted foetuses representing affected males. As far as I am aware, there is, as yet no way of detecting the gene, and consequently no means of prevention.

Focal Dermal Hypoplasia Syndrome Last Updated: February 16, 2006 Author: Wendy Lee, MD, Assistant Professor of Dermatology, Department of Dermatology, Uniformed Services University of Health Sciences Coauthor(s): Robert W Goltz, MD, Clinical Professor, Department of Internal Medicine, Section of Dermatology, University of California at San Diego Focal dermal hypoplasia (FDH) is an uncommon genetic disorder characterized by distinctive skin abnormalities and a wide variety of defects that affect the eyes; teeth; and skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. The mnemonic FOCAL can be used to remember some of the key features of this syndrome: female sex; osteopathia striata; coloboma; absent ectodermis-, mesodermis-, and neurodermis-derived elements; and lobster claw deformity. FDH is also known as Goltz syndrome or Goltz-Gorlin syndrome. These eponyms should not to be confused with Gorlin syndrome or Gorlin-Goltz syndrome, which is basal cell nevus syndrome. FDH is identified as entry 305600 in the Online Mendelian Inheritance of Man database. Affected individuals are often recognized at birth or occasionally prenatally, but cases involving a minor expression of the syndrome may be diagnosed later in life. The name focal dermal hypoplasia is somewhat of a misnomer because the skin lesions appear to evolve as accumulations of fat rather than hypoplasia of the dermis.

Focal dermal hypoplasia (FDH) is a rare form of ectodermal dysplasia that is inherited as an X-linked dominant genetic trait. Since affected male fetuses usually do not survive early pregnancy, it is found almost exclusively in females. This disorder is characterized by skin abnormalities that develop into streaks or lines of tumor-like lumps on various parts of the body. This syndrome displays a wide array of symptoms and may affect almost any organ. Lists of support organizations

From HON Includes skin, hand and foot clinical images