Corneodermatosseous syndrome (also known as "CDO syndrome") is an autosomal dominant condition with onset in infancy, characterized by corneal dystrophy, photophobia, diffuse palmoplantar keratoderma, distal onycholysis, skeletal abnormalities, with brachydactyly, short stature, and medullary narrowing of digits.

This is rare and is usually due to mutations in the R-spondin 4 (RSPO4) gene which is located on the short arm of chromosome 20 (20p13). Clinically it is manifest by the absence (anonychia) or hypoplasia (hyponuchia) of finger- and/or toenails.

There is no consensus on what degree of angulation justifies a diagnosis, an incline between 15° and 30° is typical. A similar-sounding term, camptodactyly, is a fixed flexion deformity of a digit.

Confluent and reticulated papillomatosis of Gougerot and Carteaud (also known as "Confluent and reticulated papillomatosis," "CRP", "CARP", "Familial cutaneous papillomatosis," and "Familial occurrence of confluent and reticulated papillomatosis") is an uncommon but distinctive acquired ichthyosiform dermatosis characterized by persistent dark, scaly, papules and plaques that tend to be localized predominantly on the central trunk.

Henri Gougerot and Alexandre Carteaud originally described the condition in 1927. The cause remains unknown, but the observation that the condition may clear with Minocycline turned attention to an infectious agent. "Actinomycete Dietzia" strain X was isolated from one individual. Other antibiotics found useful include azithromycin, fusidic acid, clarithromycin, erythromycin, tetracycline and cefdinir.

Anonychia is the absence of nails, an anomaly, which may be the result of a congenital ectodermal defect, ichthyosis, severe infection, severe allergic contact dermatitis, self-inflicted trauma, Raynaud phenomenon, lichen planus, epidermolysis bullosa, or severe exfoliative diseases.

Molecular (DNA) testing for PAX6 gene mutations (by sequencing of the entire coding region and deletion/duplication analysis) is available for isolated aniridia and the Gillespie syndrome. For the WAGR syndrome, high-resolution cytogenetic analysis and fluorescence in situ hybridization (FISH) can be utilized to identify deletions within chromosome band 11p13, where both the PAX6 and WT1 genes are located.

Cooks syndrome is a hereditary disorder which is characterized in the hands by bilateral nail hypoplasia on the thumb, index finger, and middle finger, absence of fingernails (anonychia) on the ring finger and little finger, lengthening of the thumbs, and bulbousness of the fingers. In the feet, it is characterized by absence of toenails and absence/hypoplasia of the distal phalanges. In the second study of this disorder, it was found that the intermediate phalanges, proximal phalanges, and metacarpals were unaffected.

The disorder was first described by Cooks "et al." in 1985 after being discovered in two generations of one family. It was proposed that the inheritance of the disorder is autosomal dominant. A second family, this with three affected generations, confirmed that the inheritance of the disorder is autosomal dominant. Although several genetic disorders exist which can cause anonychia and onychodystrophy, such disorders often cause other anomalies such as deafness, mental retardation, and defects of the hair, eyes, and teeth. Cooks syndrome is not known to cause any such anomalies.

In 1999, a pair of siblings was found with brachydactyly type B. Because the disorder primarily affected the nails and distal phalanges, the research group concluded that brachydactyly type B and Cooks syndrome are the same disorder. However, in 2007, a 2-year-old girl was found with symptoms consistent with both brachydactyly type B and Cooks syndrome. It was found that the two syndromes were distinct clinically, radiologically, and genetically.

Most instances of onycholysis without a clear cause will heal spontaneously within a few weeks. The most commonly recommended treatment is to keep the nail dry as much as possible and allow the nail to slowly reattach. Trimming away as much loose nail as can be done comfortably will prevent the nail from being pried upwards. Cleaning under the nail is not recommended as this only serves to separate the nail further. Bandages are also to be avoided. When kept dry and away from further trauma, the nail will reattach from the base upward (i.e., from proximal to distal).

If the underlying cause of the condition is not found and the nail continues to detach despite conservative treatment, the nail bed may begin to form a granular layer of abnormal cells on its surface. After six months of detachment, this layer is likely to prevent the adhesion of any new nail tissue, possibly leading to permanent deformity.

In racquet nails (also known as brachyonychia, nail en raquette, and racquet thumb), the nail plate is flattened, the end of the thumb is widened and flattened, and the distal phalanx is abnormally short. In racquet nails, the width of the nail bed and nail plate is greater than their length. The condition is painless and asymptomatic.

Racquet nails usually occur on one or both thumbs, but may appear on all fingers and toes. It may be genetic, inherited as an autosomal-dominant trait, or acquired. Genetic disorders associated with racquet nail include Larsen syndrome, Brooke–Spiegler syndrome, Rubinstein–Taybi syndrome, Hajdu–Cheney syndrome, cartilage–hair hypoplasia, pycnodysostosis, acrodysostosis, and brachydactylia.

Acquired racquet nail is associated with acroosteolysis and psoriatic arthropathy. Acquired racquet nail may also be diagnostic of bone resorption in hyperparathyroidism.

Racquet nail often presents with other nail conditions such as onycholysis, koilonychia, pachyonychia, Muehrcke's lines, leuconychia, and half-and-half nails. Cosmetic surgery can be used to improve the appearance of the nails.

Congenital onychodysplasia of the index fingers is defined by the presence of the condition at birth, either unilateral or bilateral index finger involvement, variable distortion of the nail or lunula, and polyonychia, micronychia, anonychia, hemionychogryphosis, or malalignment.

- The original paper was

- This condition is also called Iso-Kikuchi syndrome, since Iso was the first author who published it in a Japanese paper.

Adermatoglyphia is an extremely rare genetic disorder which causes a person to have no fingerprints. There are only four known extended families worldwide which are affected by this condition.

In 2011, the description of a case of a person from Switzerland lacking fingerprints as an isolated finding was published. The phenotype was mapped to chromosome 4q22. In the splice-site of a 3' exon of the gene for SMARCAD1-helicase, a point mutation was detected. It results in a shortened form of the skin-specific protein. The heterozygous mode of mutation suggests an autosomal dominant mode of inheritance.

Other conditions can cause a lack of fingerprints, but unlike them, adermatoglyphia has no other side effects. Mutations in helicases are involved in other rare genetic diseases, for instance Werner syndrome.

Neoplasms of the nailbed may often present with paronychia, ingrown nail, onycholysis, pyogenic granuloma, nail-plate dystrophy, longitudinal erythronychia, bleeding, and discolorations. There are various benign and malignant neoplasms that may occur in or overlying the nail matrix and in the nailbed, and symptoms may include pain, itching, and throbbing.

Benign tumors of the nails include verruca, pyogenic granuloma, fibromas, nevus cell nevi, myxoid cysts, angiofibromas (Koenen tumors), and epidermoid cysts.

Squamous cell carcinoma of the nailbed is uncommon, and often mistaken for a pyogenic granuloma initially. Subungual melanoma is frequently diagnosed late in the course of growth.

The Nail Psoriasis Severity Index (NAPSI) is a numeric, reproducible, objective, simple tool for evaluation of nail psoriasis. It evaluates several signs separately, each on a 1–3 scale: pitting, Beau's lines, subungual hyperkeratosis and onycholysis. A 2005 study proposed a modified NAPSI scale for persons with psoriasis and named the title of their publication "Modification of the Nail Psoriasis Severity Index". Then, in 2007, a study found that there was a high level of inter-rater variability of the 2003 NAPSI scale and proposed another index which was, like the 2005 article, a modification of the 2003 article, and was named modified NAPSI.

A 2008 study found that Cannavo's qualitative system correlated with NAPSI (P<0.001) and is less time-consuming.

There is a risk of misdiagnosis with onychomycosis.

Reoviruses vaccines are advocated (in dams or in broilers) do not entirely solve the problem.

General hygiene and correct breeding conditions (especially correct brooding temperatures) may be efficient, but the disease often disappears as it had appeared, which makes it difficult to appreciate the effectiveness of control measures.

Due to a developmental arrest there is an abnormal alignment of the joint surfaces at either interphalangeal joint causing angulation in the plane of the palm. The finger may be slightly bent or have a very prominent bend.

Isolated congenital asplenia (ICAS) is a rare disease in humans that can cause life-threatening bacterial infections in children due to primary immunodeficiency. The infections can include pneumococal sepsis and meningitis.

ICAS is a ribosomopathy, due to autosomal dominant mutation of the "RPSA" gene on chromosome 3p21. Unlike heterotaxy syndrome, the absent spleen is not associated with other structural developmental defects.

Benign hereditary chorea (BHC), also known as benign familial chorea, is a rare autosomal dominant neurogenetic syndrome. It typically presents in childhood with isolated chorea. Unlike other neurogenetic causes of chorea such as Huntington's disease, BHC is not progressive, and not associated with cognitive decline or psychiatric problems in the vast majority of cases.

BHC is caused by a single-nucleotide insertion mutation in "TITF1", which encodes thyroid transcription factor 1 (TTF-1). This gene is also known as NK2 homeobox 1 (NKX2-1)

In some cases, additional developmental abnormalities of lung and thyroid tissue are found in BHC, leading to the suggested alternative name "brain-lung-thyroid syndrome".

Available studies lack sufficient power to extrapolate a standardized therapeutic regimen.

As of April 2009, an assessment of the evidence for the efficacy and safety of the treatments for nail psoriasis is in progress.

- Infliximab appears to be the most effective treatment for nail psoriasis to date.

- Results from low-dose acitretin therapy show NAPSI score reductions comparable with those studies evaluating biologic drugs for nail psoriasis and suggest that low-dose systemic acitretin should be considered in the treatment of nail psoriasis.

Onycholysis is a common medical condition characterized by the painless detachment of the nail from the nail bed, usually starting at the tip and/or sides. On the hands, it occurs particularly on the ring finger but can occur on any of the fingernails. It may also happen to toenails.

Onycholysis can occur in many conditions, including psoriasis. In thyrotoxicosis it is thought to be due to sympathetic overactivity. It may also be seen in infections or trauma.

Warty dyskeratoma, also known as an Isolated dyskeratosis follicularis, is a benign epidermal proliferation with distinctive histologic findings that may mimic invasive squamous cell carcinoma and commonly manifests as an umbilicated (Having a central mark or depression resembling a navel) lesion with a keratotic plug, WD have some histopathologic similarities to viral warts but it's not caused by HPV and the majority of these lesions display overall histopathologic features consistent with a follicular adnexal neoplasm. usually limited to the head, neck, scalp or face and vulva. Lesions are generally and sporadic and may be associated with a follicular unit. Oral involvement, particularly the hard palate, and genital involvement have been reported. it can also be thought of as one of the manifestations of focal acantholytic dyskeratosis, an epidermal reaction pattern that can be seen in several disorders, including Darier's disease and Grover's disease. But the main Difference between Darier disease and Warty dyskeratoma, is that Darier disease inherited dermatosis (autosomal dominant) consisting of multiple keratotic papules on the face, trunk, and extremities, while WD occurs as an isolated, noninherited, single keratotic nodule mainly confined to the head and neck as mentioned earlier.

Hemihypertrophy, now more commonly referred to as hemihyperplasia in the medical literature, is a condition in which one side of the body or a part of one side of the body is larger than the other to an extent considered greater than the normal variation. As it is difficult to establish a set clinical criteria for diagnosis of hemihyperplasia, the dictum is often used that the clinician should be able to see the asymmetry "from the end of the bed".

Hemihyperplasia is a congenital overgrowth disorder and the asymmetry can range from mild to severe. It is important to establish a diagnosis because hemihyperplasia is associated with an increased risk for embryonal tumors, mainly Wilms tumor and hepatoblastoma. Due to the heightened tumor risk, there is a tumor screening protocol that is recommended for all children with isolated hemihyperplasia and Beckwith-Wiedemann Syndrome. Some of the other syndromes associated with hemihyperplasia may also follow this tumor surveillance protocol. The recommended tumor surveillance protocol is:

1. Any child with suspected isolated hemihyperplasia should be referred to a clinical geneticist for evaluation.

2. Abdominal ultrasound every 3 months until 7 years

3. Serum alpha fetoprotein measurement every 3 months until 4 years

4. Daily caretaker abdominal examination at the discretion of the provider/parent

In some cases, children with hemihyperplasia may have different leg lengths. There are two main surgical options for the treatment of uneven leg lengths- shortening and lengthening. Epiphysiodesis, which involves removing part of the growth plate of the longer leg, allowing the shorter leg to "catch up", may be performed on patients still able to grow. Bone resection is performed on patients who have no growth left and involves removing part of the bone. Leg lengthening procedures are more painful, involving the insertion of pins to be turned, moving parts of the bone apart (Ilizarov's Method). This process is reserved mainly for patients with a discrepancy greater than 4 cm, although some leg lengthening procedures are now done cosmetically. Non-surgical options include attachment of a lift to the shoe, allowing the patient to walk normally.

Children with hemihypertrophy may also develop scoliosis, a curvature of the spine.

Hemifacial hyperplasia is believed to be a minor form of hemihypertrophy.

Warty dyskeratoma must be differentiated from vulvar dysplasia, Bowenoid papulosis, squamous carcinoma, condyloma, and other viral-induced squamous lesions.

Prevalence is estimated to be 0.005%. The age of onset has been found to be under 15 years in 40% of cases while it is between 10 and 14 years in one third of the cases. Females outnumber males, 4 to 1. Only 3% have attacks after age 52.

Premature thelarche is a rare medical condition that is characterized by isolated breast development (thelarche being the onset of breast development) at a very early age with no other signs of sexual maturation. It generally occurs within the first 1 to 4 years of life, with a peak incidence of 2 years of age, and tends to resolve within 1 to 2 years without treatment. The condition never advances beyond Tanner stage III breast development.

Premature thelarche is distinct from neonatal breast hyperplasia (see also witch's milk), which is common in the first few months of life and is due to acute exposure to high levels of sex hormones like estrogen during pregnancy. Premature thelarche is also distinct from precocious puberty, which generally occurs later in childhood and also includes development of other pubertal characteristics.

Treatment with fennel ("Foeniculum vulgare") has been associated with premature thelarche in several case reports. Estradiol levels were found to be elevated by 15–20 times for the ages of the afflicted girls (5 months to 5 years). Also, fennel is known to contain anethole, an estrogenic compound.