Axenfeld syndrome (also known as Axenfeld-Rieger syndrome or Hagedoom syndrome) is a rare autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region.

Although most recognized for its correlation with the onset of glaucoma, the malformation is not limited to the eye, as Axenfeld syndrome when associated with the PITX2 genetic mutation usually presents congenital malformations of the face, teeth, and skeletal system.

The most characteristic feature affecting the eye is a distinct corneal posterior arcuate ring, known as an "embryotoxon". The iris is commonly adherent to the Schwalbe's line (posterior surface of the cornea).

Diagnosis

One of the three known genetic mutations which cause Rieger Syndrome can be identified through genetic samples analysis. About 40% of Axenfeld-Rieger sufferers have displayed mutations in genes PITX2, FOXC1, and PAX6. The difference between Type 1, 2, and 3 Axenfeld Syndrome is the genetic cause, all three types display the same symptoms and abnormalities.

The OMIM classification is as follows:

Detection of any of these mutations can give patients a clear diagnosis and prenatal procedures such as preimplantation genetic diagnosis, Chorionic villus sampling and Amniocentesis can be offered to patients and prospective parents.

People with the combination of Duane anomaly and radial ray malformations may have a variety of other signs and symptoms. These features include:

- Unusually shaped ears

- Hearing loss

- Heart and kidney defects

- A distinctive facial appearance

- An inward- and downward-turning foot (a clubfoot)

- Fused vertebrae.

This is characterized by hand and arm abnormalities. The following are specific characteristics:

- Malformed or absent (aplasia) thumb

- A thumb that looks more like a finger

- Partial or complete absence of a radius

- Shortening and radial deviation of the forearms

- Triphalangeal thumb

- Duplication of the thumb (preaxial polydactyly)

Microspherophakia is a rare congenital autosomal recessive condition where the lens of the eye is smaller than normal and spherically shaped. This condition may be associated with a number of disorders including Peter's anomaly, Marfan syndrome, and Weill–Marchesani syndrome. The spherical shape is caused by an underdeveloped zonule of Zinn, which doesn't exert enough force on the lens to make it form the usual oval shape. It is a result of a homozygous mutation to the LTBP2 gene.

Causes a ‘white reflex’ in the affected eye (leukocoria), prompting further investigation.

The primary vitreous used in formation of the eye during fetal development remains in the eye upon birth and is hazy and scarred. The symptoms are leukocoria, strabismus, nystagmus and blurred vision, blindness.

SHORT is an acronym for short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, rieger anomaly and teething delay.

Other characteristics common in SHORT syndrome are a triangular face, small chin with a dimple, a loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech.

Anterior segment mesenchymal dysgenesis is a failure of the normal development of the tissues of the anterior segment of the eye. It leads to anomalies in the structure of the mature anterior segment, associated with an increased risk of glaucoma and corneal opacity.

Peters' (frequently misspelled Peter's) anomaly is a specific type of mesenchymal anterior segment dysgenesis, in which there is central corneal leukoma, adhesions of the iris and cornea, and abnormalities of the posterior corneal stroma, Descemet's membrane, corneal endothelium, lens, and anterior chamber.

Persistent tunica vasculosa lentis is a congenital ocular anomaly. It is a form of persistent hyperplastic primary vitreous (PHPV).

It is a developmental disorder of the vitreous. It is usually unilateral and first noticed in the neonatal period. It may be associated with micropthalmos, cataracts, and increased intraocular pressure. Elongated ciliary processes are visible through the dilated pupil. A USG B-scan confirms diagnosis in the presence of a cataract.

Peters plus syndrome (Krause–van Schooneveld–Kivlin syndrome) is a hereditary syndrome that mainly affects the eyes, growth and development of the individual. It is also known as Krause–Kivlin syndrome.

Features of this syndrome include Peters anomaly, leukoma (corneal opacity), central defect of Descemet's membrane, and shallow anterior chamber with synechiae between the iris and cornea. It is associated with short limb dwarfism and delayed mental development.

Krause–van Schooneveld–Kivlin syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH), which means that the syndrome, or a subtype, affects fewer than 200,000 people in the United States.

It is associated with the enzyme "B3GALTL".

It was characterized in 1984 by van Schooneveld.

Wildervanck syndrome or cervico-oculo-acoustic syndrome comprises a triad of:

- Duane syndrome

- Klippel-Feil anomaly (fused cervical vertebrae)

- congenital hearing loss

Fleischer's syndrome is an extremely rare congenital anomaly characterized by displacement of the nipples, occasional polymastia, and hypoplasia of both kidneys.

Nager acrofacial dysostosis is a genetic congenital anomaly syndrome. Nager syndrome displays several or all of the following characteristics: underdevelopment of the cheek and jaw area, down-sloping of the opening of the eyes, lack or absence of the lower eyelashes, kidney or stomach reflux, hammer toes, shortened soft palate, lack of development of the internal and external ear, possible cleft palate, underdevelopment or absence of the thumb, hearing loss (see hearing loss with craniofacial syndromes) and shortened forearms, as well as poor movement in the elbow, and may be characterized by accessory tragi. Occasionally, affected individuals develop vertebral anomalies such as scoliosis. The inheritance pattern is said to be autosomal but there are arguments as to whether it is autosomal dominant or autosomal recessive. Most cases tend to be sporadic. Nager syndrome is also linked to five other similar syndromes: Miller syndrome, Treacher Collins, Pierre Robin, Genee-Wiedemann, and Franceschetti-Zwahlen-Klein.

Nager syndrome is thought to be caused by haploinsufficiency of the spliceosomal factor SF3B4.

Vision in the affected eye is impaired, the degree of which depends on the size of the defect, and typically affects the visual field more than visual acuity. Additionally, there is an increased risk of serous retinal detachment, manifesting in 1/3 of patients. If retinal detachment does occur, it is usually not correctable and all sight is lost in the affected area of the eye, which may or may not involve the macula.

Shprintzen–Goldberg syndrome is a multiple anomaly syndrome that has craniosynostosis, multiple abdominal hernias, cognitive impairment, and other skeletal malformations as key features. Several reports have linked the syndrome to a mutation in the "FBN1" gene, but these cases do not resemble those initially described in the medical literature in 1982 by Shprintzen and Goldberg, and Greally et al. in 1998 failed to find a causal link to FBN1. At this time, the cause of Shprintzen–Goldberg syndrome remains uncertain. The syndrome is rare with fewer than 50 cases described in the medical literature to date.

Facial femoral syndrome is a rare congenital disorder. It is also known as femoral dysgenesis, bilateral femoral dysgenesis, bilateral-Robin anomaly and femoral hypoplasia-unusual facies syndrome. The main features of this disorder are underdeveloped thigh bones (femurs) and unusual facial features.

The first noticeable signs of the syndrome usually do not appear until after the first twelve months of the child’s life. The child usually has severe balance issues as he or she learns to sit or walk, often leaning or tilting the head toward the good eye to correct the brain’s skewed perception of the world. Often the child will fall in the same direction while walking or run into objects that are placed on his or her blind side. Additionally, family members may notice a white reflex in the pupil of an affected child instead of the normal red reflex when taking photographs. The presence of this phenomenon is dependent on the degree of the coloboma, with larger colobomas more likely to manifest this particular phenomenon.

This anomaly must be confirmed through pupillary dilation and examination of the optic disc, as the symptoms alone do not constitute a diagnosis.

People with optic nerve colobomas live relatively normal lives. Although non-prescription glasses should be worn for eye protection, this syndrome does not usually prevent the individual from living a normal life, driving cars, playing sports, reading, etc. Certain activities, however, may be more difficult for patients with optic nerve colobomas due to a compromised view of the world. Like most other eye conditions, a diagnosis of optic nerve coloboma precludes a person from certain occupations.

Asymmetric crying facies (ACF), also called Cayler cardiofacial syndrome, partial unilateral facial paresis and hypoplasia of depressor angula oris muscle, is a minor congenital anomaly caused by agenesis or hypoplasia of the depressor anguli oris muscle, one of the muscles that control the movements of the lower lip. This unilateral facial weakness is first noticed when the infant cries or smiles, affecting only one corner of the mouth and occurs on the left side in nearly 80% of cases. It is associated with other birth defects in more than 50% of cases.

When the hypoplasia of the depressor anguli oris muscle is associated with congenital cardiac defects, the term 'Cayler cardiofacial syndrome' is used.

Cayler syndrome is part of 22q11.2 deletion syndrome.

It was characterized by Cayler in 1969.

SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems.

It was characterized in 1975.

Cryptophthalmos is a rare congenital anomaly in which the skin is continuous over the eyeball with absence of eyelids. It is classified into three types: complete, incomplete and abortive. Failure of eyelid separation can be associated with maldevelopment of the underlying cornea and microphthalmia. Cryptophthalmos usually occurs on both sides and occurs in association with other multiple malformations collectively referred to as Fraser syndrome.

Although the finding itself is rare, MGDA can be associated with midline cranial defects and abnormal carotid circulation, such as carotid stenosis/aplasia or progressive vascular obstruction with collateralization (also known as moyamoya disease). The vascular defects may lead to ischemia, stroke, or seizures and so a finding of MGDA should be further investigated with radiographic imaging.

The morning glory disc anomaly (MGDA) is a congenital deformity resulting from failure of the optic nerve to completely form in utero. The term was coined in 1970 by Kindler, noting a resemblance of the malformed optic nerve to the morning glory flower. The condition is usually unilateral.

On fundoscopic examination, there are three principal findings comprising the anomaly:

1. an enlarged, funnel-shaped excavation in optic disc

2. an annulus or ring of pigmentary changes surrounding the optic disc excavation

3. a central glial tuft overlying the optic disc

The diagnosis is based on the combination of unusual facial features and the dysplastic or absent femurs.

Diagnosis may be made antenatally.