The specific cause of camptodactyly remains unknown, but there are a few deficiencies that lead to the condition. A deficient lumbrical muscle controlling the flexion of the fingers, and abnormalities of the flexor and extensor tendons.

A number of congenital syndromes may also cause camptodactyly:

- Jacobsen syndrome

- Beals Syndrome

- Blau syndrome

- Freeman-Sheldon syndrome

- Cerebrohepatorenal syndrome

- Weaver syndrome

- Christian syndrome 1

- Gordon Syndrome

- Jacobs arthropathy-camptodactyly syndrome

- Lenz microphthalmia syndrome

- Marshall-Smith-Weaver syndrome

- Oculo-dento-digital syndrome

- Tel Hashomer camptodactyly syndrome

- Toriello-Carey syndrome

- Stuve-Wiedemann syndrome

- Loeys-Dietz syndrome

- Fryns syndrome

- Marfan's syndrome

- Carnio-carpo-tarsal dysthropy

Roberts syndrome is an extremely rare condition that only affects about 150 reported individuals. Although there have been only about 150 reported cases, the affected group is quite diverse and spread worldwide. Parental consanguinity (parents are closely related) is common with this genetic disorder. The frequency of Roberts syndrome carriers is unknown.

Males are twice as likely as females to have this characteristic, and it tends to run in families. In its non-symptomatic form, it is more common among Asians and Native Americans than among other populations, and in some families there is a tendency to inherit the condition unilaterally, that is, on one hand only.

The presence of a single transverse palmar crease can be, but is not always, a symptom associated with abnormal medical conditions, such as fetal alcohol syndrome, or with genetic chromosomal abnormalities, including Down Syndrome (chromosome 21), cri du chat syndrome (chromosome 5), Klinefelter syndrome, Wolf-Hirschhorn Syndrome, Noonan syndrome (chromosome 12), Patau syndrome (chromosome 13), IDIC 15/Dup15q (chromosome 15), Edward's syndrome (chromosome 18), and Aarskog-Scott syndrome (X-linked recessive), or autosomal recessive disorder, such as Leaukocyte adhesion deficiency-2 (LAD2). A unilateral single palmar crease was also reported in a case of chromosome 9 mutation causing Nevoid basal cell carcinoma syndrome and Robinow syndrome. It is also sometimes found on the hand of the affected side of patients with Poland Syndrome, and craniosynostosis.

While not always pathological, it can present as a birth defect in multiple syndromes including:

- Catel–Manzke syndrome

- Bloom syndrome

- Coffin–Lowry syndrome

- congenital rubella

- Cri du chat syndrome

- DiGeorge's syndrome

- Ehlers-Danlos syndrome

- fetal alcohol syndrome

- Hallermann-Streiff syndrome

- Hemifacial microsomia (as part of Goldenhar syndrome)

- Juvenile idiopathic arthritis

- Marfan syndrome

- Noonan syndrome

- Pierre Robin syndrome

- Prader–Willi syndrome

- Progeria

- Russell-Silver syndrome

- Seckel syndrome

- Smith-Lemli-Opitz syndrome

- Treacher Collins syndrome

- Trisomy 13 (Patau syndrome)

- Trisomy 18 (Edwards syndrome)

- Wolf–Hirschhorn syndrome

- X0 syndrome (Turner syndrome)

Low-set ears are ears with depressed positioning of the pinna two or more standard deviations below the population average.

It can be associated with conditions such as:

- Down's syndrome

- Turner Syndrome

- Noonan syndrome

- Patau syndrome

- DiGeorge syndrome

- Cri du chat syndrome

- Edwards syndrome

- Fragile X syndrome

It is usually bilateral, but can be unilateral in Goldenhar syndrome.

Respiratory complications are often cause of death in early infancy.

The pattern of inheritance is determined by the phenotypic expression of a gene—which is called "expressivity". Camptodactyly can be passed on through generations in various levels of phenotypic expression, which include both or only one hand. This means that the genetic expressivity is incomplete. It can be inherited from either parent.

In most of its cases, camptodactyly occurs sporadically, but it has been found in several studies that it is inherited as an autosomal dominant condition.

The first gene that could cause the syndrome is described recently and is called NF1X (chromosome 19: 19p13.1).

It is likely that this syndrome is inherited in an autosomal dominant fashion, however there may be a recessive form with hypotonia and developmental delay.

At this time, there are no other phenotypes (observable expressions of a gene) that have been discovered for mutations in the ESCO2 gene.

In humans, a single transverse palmar crease is a single crease that extends across the palm of the hand, formed by the fusion of the two palmar creases (known in palmistry as the "heart line" and the "head line") and is found in people with Down Syndrome. It is also found in 1.5% of the general population in at least one hand.

Because it resembles the usual condition of non-human simians, it is also known as a simian crease or simian line, although these terms have widely fallen out of favor due to their pejorative connotation.

The original report was of a family in Cardiff, United Kingdom. There are subsequent reports of patients from the USA, France, Australia, UAE, India and from Cuba.

Heart-hand syndrome type 2 is also known as Berk–Tabatznik syndrome. Berk–Tabatznik syndrome is a condition with an unknown cause that shows symptoms of short stature, congenital optic atrophy and brachytelephalangy. This condition is extremely rare with only two cases being found.

Heart-hand syndrome type 3 is very rare and has been described only in three members of a Spanish family. It is also known as Heart-hand syndrome, Spanish type.

Muenke syndrome is caused by a specific gene mutation in the FGFR3 gene. The mutation arises randomly; there is no full understanding for what causes this mutation. This mutation causes the FGFR3 protein to be overly active; it interferes with normal bone growth, and allows skull bones to fuse prematurely. There is no connection between anything mother did (or did not do) to activate the syndrome. If neither of the parents have Muenke syndrome, chances of having another child with the syndrome are minimal.

This condition is inherited in an autosomal dominant pattern. This means if a parent has Muenke syndrome, every newborn has a 50% chance of inheriting the syndrome.

Malpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome, is a rare congenital syndrome. It is characterized by facial clefting (any type of cleft in the bones and tissues of the face, including a cleft lip and palate), a appendage (a "human tail"), growth deficiency, intellectual and developmental disability, and abnormalities of the renal system (kidneys) and the male genitalia. Abnormalities of the heart, and other skeletal malformations may also be present. The syndrome was initially described by Guilliaume Malpuech and associates in 1983. It is thought to be genetically related to Juberg-Hayward syndrome. Malpuech syndrome has also been considered as part of a spectrum of congenital genetic disorders associated with similar facial, urogenital and skeletal anomalies. Termed "3MC syndrome", this proposed spectrum includes Malpuech, Michels and Mingarelli-Carnevale (OSA) syndromes. Mutations in the "COLLEC11" and "MASP1" genes are believed to be a cause of these syndromes. The incidence of Malpuech syndrome is unknown. The pattern of inheritance is autosomal recessive, which means a defective (mutated) gene associated with the syndrome is located on an autosome, and the syndrome occurs when two copies of this defective gene are inherited.

It can be detected by the naked eye as well as dental or skull X-Ray testing.

The incidence of Fraser syndrome is 0.043 per 10,000 live born infants and 1.1 in 10,000 stillbirths, making it a rare syndrome.

3C syndrome is very rare, occurring in less than 1 birth per million. Because of consanguinity due to a founder effect, it is much more common in a remote First Nations village in Manitoba, where 1 in 9 people carries the recessive gene.

Rosselli–Gulienetti syndrome, also known as Zlotogora–Ogur syndrome and Bowen–Armstrong syndrome, is a type of congenital ectodermal dysplasia syndrome. The syndrome is relatively rare and has only been described in a few cases.

Hay–Wells syndrome (also known as AEC syndrome; see "Naming") is one of at least 150 known types of ectodermal dysplasia.These disorders affect tissues that arise from the ectodermal germ layer, such as skin, hair, and nails.

Hay–Wells syndrome is also known as AEC syndrome; this is short for "ankyloblepharon–ectodermal dysplasia–clefting syndrome", "ankyloblepharon filiforme adnatum–ectodermal dysplasia–cleft palate syndrome", "ankyloblepharon–ectodermal defects–cleft lip/palate (AEC) syndrome", "ankyloblepharon–ectodermal defect–cleft lip and/or palate syndrome", or "ankyloblepharon ectodermal dysplasia and clefting". Hay–Wells syndrome, or Ankyloblepharon-Ectodermal Dysplasia-Clefting (AEC) syndrome, is one of over one-hundred forms of ectodermal dysplasia; a collection of inherited diseases that cause atypical development of nails, glands, teeth, and hair. Males and females are equally affected by Hay–Wells syndrome. No demographic has been shown to be especially susceptible to the syndrome. In the United States, Hay-Wells like syndromes occur in only one in 100,000 births. Symptoms are apparent at birth, or become apparent when atypical development of teeth occurs. Major symptoms of Hay–Wells syndrome include: sparse hair and eyelashes, missing teeth, cleft palate, cleft lip with fusing of the upper and lower eyelids, and deformed nails. Therefore, a diagnosis of Hay–Wells syndrome is largely based upon the physical clinical presentation of the patient.

Some people may have some mental slowness, but children with this condition often have good social skills. Some males may have problems with fertility.

It has several different types:

- type 1 - Apert syndrome

- type 2 - Crouzon syndrome

- type 3 - Saethre-Chotzen syndrome

- type 5 - Pfeiffer syndrome

A related term, "acrocephalopolysyndactyly" (ACPS), refers to the inclusion of polydactyly to the presentation. It also has multiple types:

- type 1 - Noack syndrome; now classified with Pfeiffer syndrome

- type 2 - Carpenter syndrome

- type 3 - Sakati-Nyhan-Tisdale syndrome

- type 4 - Goodman syndrome; now classified with Carpenter syndrome

- type 5 - Pfeiffer syndrome

It has been suggested that the distinction between "acrocephalosyndactyly" versus "acrocephalopolysyndactyly" should be abandoned.

More than 80% of children with Patau syndrome die within the first year of life. Children with the mosaic variation are usually affected to a lesser extent. In a retrospective Canadian study of 174 children with trisomy 13, median survival time was 12.5 days. One and ten year survival was 19.8% and 12.9% respectively.