Spider lamb syndrome, also known as spider syndrome and more formally as ovine hereditary chondrodysplasia, is a homozygous recessive disorder affecting the growth of cartilage and bone in sheep. It is a semilethal trait, which is thought to have been first observed in the 1970s, and is most common in sheep of the Suffolk and Hampshire breeds. The mutation which causes spider lamb syndrome is found on ovine chromosome 6, and involves the inactivation of fibroblast growth factor receptor 3.

Afflicted animals may be visibly deformed at birth and unable to stand, or seemingly normal for the first 4 to 6 weeks of their lives.

The name derives from the limbs of afflicted animals being thin, elongated, and "spider-like".

Weissenbacher-Zweymüller syndrome is diagnosed upon a thorough clinical evaluation, detailed patient history, identification of characteristic symptom and a variety of specialized tests which includes x-rays.

CDPX1 activity may be inhibited by warfarin because it is believed that ARSE has enzymatic activity in a vitamin K producing biochemical pathway. Vitamin K is also needed for controlling binding of calcium to bone and other tissues within the body.

The activity of arylsulfatase E can be measured with the substrate 4-methylumbelliferyl sulfate.

There is no cure as of now. Treatment is directed towards the specific symptoms that are present in each individual. Individuals with hearing loss are able to get treated with hearing aids.

Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital. Other symptoms can be treated with medicine or surgery. Most female patients with the syndrome can live a long and normal life, while males have only survived in rare cases.

The diagnosis of rhizomelic chondrodysplasia punctate can be based on genetic testing, as well as radiography results, plus an examination(physical) of the individual.

Usually, a common form of treatment for the condition is a type of hand cream which moisturises the hard skin. However, currently the condition is incurable.

OPA has been found in most countries where sheep are farmed, with the exception of Australia and New Zealand. OPA has been eradicated in Iceland.

No breed or sex of sheep appears to be predisposed to OPA. Most affected sheep show signs at 2 to 4 years of age.

OPA is not a notifiable disease, and therefore it is difficult to assess its prevalence.

There is no known treatment at present, although some investigators have tried to lessen the hypercalcemia with various forms of bisphosphonates.

Treatment is symptomatic, often addressing indicators associated with peripheral pulmonary artery stenosis. Laryngotracheal calcification resulting in dyspnea and forceful breathing can be treated with bronchodilators including the short and long-acting β2-agonists, and various anticholinergics. Prognosis is good, yet life expectancy depends on the severity and extent of diffuse pulmonary and arterial calcification.

The diagnosis of Albright's hereditary osteodystrophy is based on the following exams below:

- CBC

- Urine test

- MRI

Conradi–Hünermann syndrome (also known as "Conradi–Hünermann–Happle syndrome", "Happle syndrome," and "X-linked dominant chondrodysplasia punctata") is a type of chondrodysplasia punctata. It is associated with the gene EBP (gene) and affects between one in 100,000 and one in 200,000 babies.

Schmid metaphyseal chondrodysplasia is a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1.

Unlike other "rickets syndromes", affected individuals have normal serum calcium, phosphorus, and urinary amino acid levels. Long bones are short and curved, with widened growth plates and metaphyses.

It is named for the German researcher F. Schmid, who characterized it in 1949.

Management of rhizomelic chondrodysplasia punctate can include physical therapy, additionally orthopedic procedures improved function sometimes in affected people. However the prognosis is poor in this condition.

Patients with CHH usually suffer from cellular immunodeficiency. In the study of 108 Finnish patients with CHH there was detected mild to moderate form of lymphopenia, decreased delayed type of hypersensitivity and impaired responses to phytohaemagglutinin. This leads to susceptibility to and, in some more severe cases, mortality from infections early in childhood. There has also been detected combined immunodeficiency in some patients

Patients with CHH often have increased predispositions to malignancies.

Diagnosis is often confirmed by several abnormalities of skeletal origin. There is a sequential order of findings, according to Cormode et al., which initiate in abnormal cartilage calcification and later brachytelephalangism. The uniqueness of brachytelephalangy in KS results in distinctively broadened and shortened first through fourth distal phalanges, while the fifth distal phalanx bone remains unaffected. Radiography also reveals several skeletal anomalies including facial hypoplasia resulting in underdevelopment of the nasal bridge with noticeably diminished alae nasi. In addition to distinguishable facial features, patients generally demonstrate shorter than average stature and general mild developmental delay.

Cartilage–hair hypoplasia (CHH), also known as McKusick type metaphyseal chondrodysplasia, is a rare genetic disorder. It is a highly pleiotropic disorder that clinically manifests by form of short-limbed dwarfism due to skeletal dysplasia, variable level of immunodeficiency and predisposition to malignancies in some cases. It was first reported in 1965 by McKusick et al. Actor Verne Troyer is affected with this form of dwarfism, as was actor Billy Barty, who was renowned for saying "The name of my condition is Cartilage Hair Syndrome Hypoplasia, but you can just call me Billy."

The inheritance of Impossible syndrome is suspected to be autosomal recessive, which means the affected gene is located on an autosome, and two copies of the gene - one from each parent - are required to have an infant with the disorder.

Diagnosis of acquired dysfibrinogenemia uses the same laboratory tests that are used for congenital dysfibrinogenemia plus evidence for an underlying causative disease.

A skeletal survey is useful to confirm the diagnosis of achondroplasia. The skull is large, with a narrow foramen magnum, and relatively small skull base. The vertebral bodies are short and flattened with relatively large intervertebral disk height, and there is congenitally narrowed spinal canal. The iliac wings are small and squared, with a narrow sciatic notch and horizontal acetabular roof. The tubular bones are short and thick with metaphyseal cupping and flaring and irregular growth plates. Fibular overgrowth is present. The hand is broad with short metacarpals and phalanges, and a trident configuration. The ribs are short with cupped anterior ends. If the radiographic features are not classic, a search for a different diagnosis should be entertained. Because of the extremely deformed bone structure, people with achondroplasia are often "double jointed".

The diagnosis can be made by fetal ultrasound by progressive discordance between the femur length and biparietal diameter by age. The trident hand configuration can be seen if the fingers are fully extended."

Another distinct characteristic of the syndrome is thoracolumbar gibbus in infancy.

The disease has a long incubation period, and therefore signs usually occur in adult animals (over 2 years of age). Clinical signs resemble a non-specific progressive pneumonia, including poor body condition and, particularly after exercise, respiratory difficulty. Unless a concurrent lung infection is present, affected sheep continue to eat. The only sign specific to OPA is a watery nasal discharge, consisting of lung fluid produced by the affected lung tissue; lifting the hind legs of the animal above the level of its head will cause large volumes of this fluid to flow from the nostrils.

There are no reliable tests for the diagnosis of OPA in live animals which are suitable for use on farms, so diagnosis can only be confirmed at necropsy (post-mortem examination). On necropsy, lungs are interspersed with multifocal tumors. Some of these are small discrete nodules and others will involve the entire half of a lung lobule. JSRV acutely transforms the lung epithelia into cancerous cells, with type-2 pneumocytes and club cells being the likely target for JSRV transformation. The tumors have overactive secretory functions, which are a hallmark of OPA.

The retroviral antigen levels of JSRV are very high in OPA tumors and can be detected in the lung secretions of infected sheep. It is thought that infected animals secrete the virus before showing signs, so the virus is easily spread within flocks.

Impossible Syndrome, or Chondrodysplasia situs inversus imperforate anus polydactyly, is a complex combination of human congenital malformations (birth defects).

The malformations include chondrodysplasia (improper growth of bone and cartilage), situs inversus totalis (chest and abdominal organs all a mirror image of normal), cleft larynx and epiglottis, hexadactyly (six digits) on hands and feet, diaphragmatic hernia, pancreatic abnormalities, kidney abnormal on one side and absent on the other side, micropenis and ambiguous genitalia, and imperforate anus.

Only one case of Impossible Syndrome has been reported; the infant was premature and stillborn.

Chondrodysplasia Blomstrand (also known as Blomstrand's lethal chondrodysplasia) is a rare disorder caused by mutation of the parathyroid hormone receptor resulting in the absence of a functioning PTHR1. It results in ossification of the endocrine system and intermembraneous tissues and advanced skeletal maturation

Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Erich Conradi (1882–1968), that share the features of stippled epiphyses and skeletal changes.

Types include:

- Rhizomelic chondrodysplasia punctata , ,

- X-linked recessive chondrodysplasia punctata

- Conradi-Hünermann syndrome

- Autosomal dominant chondrodysplasia punctata