downward slanting eyes

convulsions, delayed development, heart murmur, muscle cramps in foot (feet)

22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. It has a birth incidence estimated at 1:4000. 

frequent joint dislocations, hip dislocation, increased joint mobility, pain in several joints

deformity skull, delayed development, face deformities, increased skin pigmentation

Crouzon Syndrome is a type of genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. 

delayed development, downward slanting eyes, short stature, widely spaced eyes

delayed development, face deformities, skin dimples on joints, testes not felt in scrotum

Apert Syndrome, virtually synonymous with Acrocephalosyndactyly, is a branchial arch syndrome, resulting from a developmental anomaly. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. 

arm length discrepancy, asymmetric body, leg length discrepancy, not gaining weight

blindness, dental problems, short stature, vision problems

The Hallermann-Streiff syndrome is a disorder that effects the body's stature, head structure and hair growth. Patients with this syndrome are shorter than the average person and may not develop hair in many places, including in the facial, leg and pubic areas. 

abnormal nails, blood in urine, delayed development, face deformities

In its hereditary form, it can be caused by a deficiency in the enzyme UMPS, a bifunctional protein that includes the enzyme activities of orotate phosphoribosyltransferase and orotidine 5'-phosphate decarboxylase. 

elbow deformity, face deformities, limited arm movements

Nager syndrome (or acrofacial dysostosis) is an extremely rare congenital defect that has only had around 90 documented cases to date (02/06/07). Only 25 or so of these people survive. With 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 and/or stomach reflux, hammer toes, shortened soft palate, petite, 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. 

ear deformity, eyelid deformity, hearing loss, small jaw

Treacher Collins syndrome (also known as Franceschetti-Zwahlen-Klein syndrome or mandibulofacial dysostosis) is a rare genetic disorder characterized by craniofacial deformities. Treacher Collins syndrome is found in 1 in 10,000 births.