It is possible to clinically detect<unk>  in infancy, but more frequently, it is detected much later, as doctors tend to detect symptoms as separate problems. Currently,<unk>  is often diagnosed clinically, since genetic testing is costly and only available on a limited basis. A physical examination would be needed to properly diagnose the patient. Certain physical characteristics can determine if the patient has some type of genetic disorder. Usually, a geneticist would perform the physical examination by measuring the distance around the head, distance between the eyes and the length of arms and legs. In addition, examinations for the nervous system or the eyes may be performed. Various imaging studies like computerized tomography scans (CT), Magnetic Resonance Imaging (MRI) or X-rays are used to see the structures within the body. Family and personal medical history are required. Information about the health of an individual is crucial because it provides traces to a genetic diagnosis. Laboratory tests, particularly genetic testing, are performed to diagnose genetic disorders. Some of the types of genetic testing are molecular, biochemical and chromosomal. Other laboratory tests performed may measure levels of certain substances in urine and blood that can also help suggest a diagnosis. Related disorders Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic<unk> s and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genetypical root cause of the widely varying, phenotypically-observed disorders. Thus,<unk>  is a ciliopathy. Other known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl<unk> , polycystic kidney and liver disease, nephronophthisis, Meckel–Gruber<unk>  and some forms of retinal degeneration. Diagnostic criteria Marshall JD et al. provided a comprehensive guidance for diagnostic criteria in their 2007 publication. Birth – 2 years: Minimum diagnosis requires 2 major criteria or 1 major and 2 minor criteria. Major criteria are: # ALMS1 mutation in 1 allele and/or family history of<unk>  # Vision pathology (nystagmus, photophobia). Minor criteria are: # Obesity # Dilated cardiomyopathy with congestive heart failure. Other variable supportive evidence: Recurrent pulmonary infections, normal digits, delayed developmental milestones. At 3–14 years of age: 2 major criteria or 1 major and 3 minor criteria. Major criteria are: # ALMS1 mutation in 1 allele and/or family history of<unk> , # Vision pathology (nystagmus, photophobia, diminished acuity). If old enough for testing: cone dystrophy by ERG. Minor criteria: # Obesity and/or insulin resistance and/or Type 2 Diabetes # History of dilated cardiomyopathy with congestive heart failure # Hearing loss # Liver dysfunction # Kidney failure # Advanced bone age Variable supportive evidence: Recurrent pulmonary infections, normal digits, delayed developmental milestones, hyperlipidemia, scoliosis, flat wide feet hypothyroidism, hypertension, recurrent urinary tract infection, growth hormone deficiency. Presentation 15 years – adulthood: 2 major and 2 minor criteria or 1 major and 4 minor criteria. Major criteria are: # ALMS1 mutation in 1 allele and/or family history of<unk> . # Vision pathology (history of nystagmus in infancy/childhood, legal blindness, cone and rod dystrophy by ERG). Minor criteria: # Obesity and/or insulin resistance and/or Type 2 Diabetes # History of dilated cardiomyopathy with congestive heart failure. # Hearing loss # Hepatic dysfunction # Renal failure # Short stature # Males: hypogonadism, Females: irregular menses and/or hyperandrogenism Other supportive features: Recurrent pulmonary infections, normal digits, history of developmental delay, hyperlipidemia, scoliosis, flat wide feet, hypothyroidism, hypertension, recurrent urinary tract infections/urinary dysfunction, growth hormone deficiency, alopecia.
Alström syndrome
McCune–Albright syndrome
Rabson–Mendenhall syndrome
Parry–Romberg syndrome
Wilson–Turner syndrome
Lightwood–Albright syndrome
Leigh syndrome
Wolcott–Rallison syndrome