Carrier testing for Roberts syndrome requires prior identification of the disease-causing mutation in the family. Carriers for the disorder are heterozygotes due to the autosomal recessive nature of the disease. Carriers are also not at risk for contracting Roberts syndrome themselves. A prenatal diagnosis of Roberts syndrome requires an ultrasound examination paired with cytogenetic testing or prior identification of the disease-causing ESCO2 mutations in the family.

Syringomas can often be diagnosed clinically based on presentation, distribution patterns over the body, lack of associated symptoms and family history. A definitive diagnosis requires a skin biopsy to allow the tissue to be examined under a microscope. Histologically, syringomas have a characteristic comma ("tadpole") shaped tail of dilated, cystic eccrine ducts.

Cytogenetic preparations that have been stained by either Giemsa or C-banding techniques will show two characteristic chromosomal abnormalities. The first chromosomal abnormality is called premature centromere separation (PCS) and is the most likely pathogenic mechanism for Roberts syndrome. Chromosomes that have PCS will have their centromeres separate during metaphase rather than anaphase (one phase earlier than normal chromosomes). The second chromosomal abnormality is called heterochromatin repulsion (HR). Chromosomes that have HR experience separation of the heterochromatic regions during metaphase. Chromosomes with these two abnormalities will display a "railroad track" appearance because of the absence of primary constriction and repulsion at the heterochromatic regions. The heterochromatic regions are the areas near the centromeres and nucleolar organizers. Carrier status cannot be determined by cytogenetic testing. Other common findings of cytogenetic testing on Roberts syndrome patients are listed below.

- Aneuploidy- the occurrence of one or more extra or missing chromosomes

- Micronucleation- nucleus is smaller than normal

- Multilobulated Nuclei- the nucleus has more than one lobe

Lelis syndrome it is a genetic disorder, a rare condition with dermatological and dental findings characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, intellectual deficit, disturbances of skin pigmentation (perioral and periorbital hyperpigmentation, vitiligo, and perinevic leukoderma) and hypodontia. Transmission is autosomal recessive.

Hypotrichosis–acro-osteolysis–onychogryphosis–palmoplantar keratoderma–periodontitis syndrome (also known as "HOPP syndrome") is a cutaneous condition characterized by a prominent palmoplantar keratoderma.

Large and especially giant congenital nevi are at higher risk for malignancy degeneration into melanoma. Because of the premalignant potential, it is an acceptable clinical practice to remove congenital nevi electively in all patients and relieve the nevocytic overload.

Marie Unna hereditary hypotrichosis (also known as "Marie Unna hypotrichosis") is an autosomal dominant condition characterized by scalp hair that is sparse or absent at birth, with variable coarse, wiry hair regrowth in childhood, and potential loss again at puberty.

Hypotrichosis–lymphedema–telangiectasia syndrome is a congenital syndrome characterized by lymphedema (swelling of tissue due to malformation or malfunction of lymphatics), the presence of telegiectasias (small dilated vessels near the surface of the skin), and hypotrichosis or alopecia (hair loss). Lymphedema usually develops in the lower extremities during puberty. Hair is normal at birth, but usually lost during infancy. Telangiectasias may present on the palms and soles more commonly than on the scalp, legs, and genitalia. The syndrome has been reported in association with both autosomal dominant and autosomal recessive inheritance patterns.

It is associated with a rare mutation of the transcription factor gene "SOX18".

Benign congenital nevi can have histological characteristics resembling melanomas, often breaking most if not all of the ABCDE rules. Dermatoscopic findings of the smaller forms of benign congenital nevi can aid in their differentiation from other pigmented neoplasms.

Microscopically, congenital melanocytic nevi appear similar to acquired nevi with two notable exceptions. For the congenital nevus, the neval cells are found deeper into the dermis. Also, the deeper nevus cells can be found along with neurovascular bundles, with both surrounding hair follicles, sebaceous glands, and subcutaneous fat. Such annexes and the hypodermis can also be hypoplasic or, conversely, present aspects of hamartoma.

Schöpf–Schulz–Passarge syndrome (also known as "eyelid cysts, palmoplantar keratoderma, hypodontia, and hypotrichosis") is an autosomal recessive condition with diffuse symmetric palmoplantar keratoderma, with the palmoplantar keratoderma and fragility of the nails beginning around age 12. In addition to palmoplantar keratoderma, other symptoms include hypodontia, hypotrichosis, nail dystrophies, and eyelid cysts (apocrine hidrocystomas). Patients may also develop syringofibroadenoma and squamous cell carcinomas.

It was characterized in 1971.

It has been associated with WNT10A.

Pure hair-nail type ectodermal dysplasia is a genetic mutation in the "hair matrix and cuticle keratin KRTHB5 gene" that causes ectodermal dysplasia of hair and nail type. Manifestations of this disorder include onychodystrophy and severe hypotrichosis. It represents as an autosomal dominant trait.

Aplasia cutis congenita (ACC) is a rare disorder characterized by congenital absence of skin. Frieden classified ACC in 1986 into 9 groups on the basis of location of the lesions and associated congenital anomalies. The scalp is the most commonly involved area with lesser involvement of trunk and extremities. Frieden classified ACC with fetus papyraceus as type 5. This type presents as truncal ACC with symmetrical absence of skin in stellate or butterfly pattern with or without involvement of proximal limbs.]It is the most common congenital cicatricial alopecia, and is a congenital focal absence of epidermis with or without evidence of other layers of the skin.

The exact etiology of ACC is still unclear but intrauterine infection by varicella or herpes virus, drugs such as methimazole, misoprostol, valproate, cocaine, marijuana etc., fetus papyraceus, feto-fetal transfusion, vascular coagulation defects, amniotic membrane adherence, abnormal elastic fiber biomechanical forces and trauma are implicated. It can be associated with Johanson-Blizzard syndrome, Adams-Oliver syndrome, trisomy 13, and Wolf-Hirschhorn syndrome.

It can also seen with exposure to methimazole and carbimazole in utero. This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19.

EEM syndrome (or Ectodermal dysplasia, Ectrodactyly and Macular dystrophy syndrome) is an autosomal recessive congenital malformation disorder affecting tissues associated with the ectoderm (skin, hair, nails, teeth), and also the hands, feet and eyes.

Acro–dermato–ungual–lacrimal–tooth (ADULT) syndrome is a rare genetic disease. ADULT syndrome is an autosomal dominant form of ectodermal dysplasia, a group of disorders that affects the hair, teeth, nails, sweat glands, and extremities. The syndrome arises from a mutation in the TP63 gene. This disease was previously thought to be a form of ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC), but was classified as a different disease in 1993 by Propping and Zerres.

ADULT syndrome features include ectrodactyly, syndactyly, excessive freckling, lacrimal duct anomalies, dysplastic nails, hypodontia, hypoplastic breasts and nipples, hypotrichosis, hypohidrosis, broad nasal bridge, midfacial hypoplasia, exfoliative dermatitis, and xerosis. The lack of facial clefting and ankyloblepharon are important because they exist in ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC) but not in ADULT syndrome.

The goal of treatment is to improve the appearance of lesions since they are otherwise not serious and typically do not cause symptoms. Many treatment methods have been attempted however, complete removal is uncommon. No single treatment method has been shown to consistently work. Both medical and surgical treatments have been studied, each with variable success. Common destructive treatment methods include carbon dioxide lasers, dermabrasion, surgical excision, electrocoagulation and chemical peels. Many of these methods are very time consuming and require multiple treatment sessions.Carbon dioxide lasers are the most commonly practiced method; however, can cause thermal damage leading to scarring in the area. Medical therapies include topical atropine, topical retinoids and oral tranilast.

The most common adverse side effects include redness, skin discoloration and pain. Other side effects include blistering and scarring.

This condition has been linked to mutations in the ribosomal GTPase BMS1 gene.

Anomalies of the hair shaft caused by ectodermal dysplasia should be ruled out. Mutations in the CDH3 gene can also appear in EEM syndrome.

Hemimelia comprises

- Fibular hemimelia, Congenital longitudinal deficiency of the fibula or Fibular longitudinal meromelia

- Tibial hemimelia, Congenital longitudenal deficiency of the tibia, Congenital aplasia and dysplasia of the tibia with intact fibula, Congenital longitudinal deficiency of the tibia or Tibial longitudinal meromelia

- Radial Hemimelia, Congenital longitudinal deficiency of the radius, Radial clubhand, Radial longitudinal meromelia or Radial ray agenesis

- Ulnar hemimelia, Congenital longitudinal deficiency of the ulna, Ulnar clubhand or Ulnar longitudinal meromelia

The extent of retinal damage is assessed by fluorescent angiography, retinal scanning and optical coherence tomography; electrophysiological examinations such as electroretinography (ERG) or multifocal electroretinography (mfERG) may also be used.

For most cases the diagnosis for congenital amputation is not made until the infant is born. One procedure that is helpful in determining this condition in an infant is an ultrasound examination of a fetus when still in the mother's abdomen as it can reveal the absence of a limb. However, since ultrasounds are routine they may not pick up all the signs of some of the more subtle birth defects.

The most popular method of treatment for congenital amputation is having the child be fit for a prosthesis which can lead to normal development, so the muscles don't atrophy. If there is congenital amputation of the fingers, plastic surgery can be performed by using the big toe or second toes in place of the missing fingers of the hand.

In rare cases of amniotic banding syndrome, if diagnosed "in utero", fetal surgery may be considered to save a limb which is in danger of amputation.

Ackerman syndrome is a familial syndrome of fused molar roots with a single canal (taurodontism), hypotrichosis, full upper lip without a cupid’s bow, thickened and wide philtrum, and occasional juvenile glaucoma.

It was described by James L. Ackerman, A. Leon Ackerman, and A. Bernard Ackerman.

It can also refer to interstitial granulomatous dermatitis.

Hypohidrotic ectodermal dysplasia (also known as "anhidrotic ectodermal dysplasia", and "Christ-Siemens-Touraine syndrome") is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands.

EEM syndrome exhibits a combination of prominent symptoms and features. These include: ectodermal dysplasia (systemic malformations of ectodermal tissues), ectrodactyly ("lobster claw" deformity in the hands and feet), macular dystrophy (a progressive eye disease), syndactyly (webbed fingers or toes), hypotrichosis (a type of hair-loss), and dental abnormalities (hypodontia).

Wiedemann–Rautenstrauch (WR) syndrome , also known as neonatal progeroid syndrome, is an autosomal recessive progeroid syndrome.

WR was first reported by Rautenstrauch and Snigula in 1977; and the earliest reports made subsequently have been by Wiedemann in 1979, by Devos in 1981, and Rudin in 1988. There have been over 30 cases of WR.

WR is associated with abnormalities in bone maturation, and lipids and hormone metabolism. Affected individuals exhibit intrauterine and postnatal growth retardation, leading to short stature and an aged appearance from birth. They have physical abnormalities including a large head (macrocephaly), sparse hair, prominent scalp veins, inward-folded eyelid (entropion), widened anterior fontanelles, hollow cheeks (malar hypoplasia), general loss of fat tissues under the skin (lipoatrophy), delayed tooth eruption, abnormal hair pattern (hypotrichosis), beaked nose, mild to severe mental retardation and dysmorphism.

Marfan lipodystrophy syndrome (MFLS) has sometimes been confused with Wiedemann–Rautenstrauch syndrome, since the Marfanoid features are progressive and sometimes incomplete. MFLS is caused by mutations near the 3'-terminus of "FBN1" that cause a deficiency of the protein hormone asprosin and progeroid-like symptoms with reduced subcutaneous white adipose tissue.