Cell surface receptor deficiencies

Achondroplasia is a genetic disorder whose primary feature is dwarfism. It is the most common cause of dwarfism and affects about 1 in 27,500 people. In those with the condition, the arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of for males and for females. Other features can include an enlarged head with prominent forehead (frontal bossing) and underdevelopment of the midface (midface hypoplasia). Complications can include sleep apnea or recurrent ear infections. Achondroplasia includes the extremely rare short-limb skelet

form of hypogonadotropic hypogonadism which is also accompanied by a total lack or partial loss in the sense of smell. The condition affects people with XX or XY chromosomes and causes atypical puberty and infertility

genetic disorder involving capillaries

hypothyroidism that is present at birth

congenital disorder of digestive system

Congenital disorder of the skull and face

monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face

congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration

acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull

Human disease

retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness

an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal-cell carcinoma

thumb | right | alt=Xray showing short metacarpals as may be seen in pseudohypoparathyroidism type 1a and 1c | Short metatarsals as may be seen in pseudohypoparathyroidism type 1a and 1c Pseudohypoparathyroidism is a rare autosomal dominant genetic condition associated primarily with resistance to the parathyroid hormone. Those with the condition have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is inappropriately high (due to the low level of calcium in the blood). Its pathogenesis has been linked to dysfunctional G proteins (in particular, Gs alpha subunit)

Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism.

human disease

osteochondrodysplasia that results in short arms and legs with excess folds of skin

intersex variation where one has XY chromosomes, male-typical reproductive organs and external genitalia, and some component(s) of a female-typical reproductive tract

autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene

autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum

syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities

disease

Pseudopseudohypoparathyroidism (PPHP) is an inherited disorder, named for its similarity to pseudohypoparathyroidism in presentation. It is more properly Albright hereditary osteodystrophy, although without resistance of parathyroid hormone (PTH), as frequently seen in that affliction. The term is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but has (unexpected for the phenotype) normal labs, including calcium and PTH.

gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female

Autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB)

human disease

immunodeficiency disorder in which the body produces very few T cells and NK cells

metaphyseal dysplasia that has material basis in mutation in PTH receptor which results in short-limbed dwarfism

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