Table 1 Diagnostic criteria for Alström syndrome (modified from Marshall et al., 2007[4]) and for Bardet-Biedl syndrome (modified from Beales et al.,1999[2])

Diagnosis is made when the following criteria are present:

Diagnosis is made when:

2 major OR 1 major + 2 minor

4 major criteria are present OR

2 major OR 1 major + 3 minor

3 major plus 2 minor criteria are present

2 major + 2 minor criteria OR 1 major + 4 minor criteria

Age

Major criteria

Minor criteria

Major criteria

Minor criteria

<2 years

ALMS 1 mutation in 1 allele and/or family history of ALMS

Obesity

Rod-cone dystrophy

Speech disorder/delay

DCM/CHF

Strabismus/cataracts/astigmatism

Vision (nystagmus, photophobia)

Polydactyly

Brachydactyly/syndactyly

3-14 years

ALMS 1 mutation in 1 allele and/or family history of ALMS

Obesity and/or insulin resistance

Obesity

Developmental delay

Learning

Polyuria/polidipsia (nephrogenic diabetes insipidus)

Vision (nystagmus, photophobia, decreased acuity, cone dystrophy by ERG)

(History of) DCM/CHF

Disabilities

Hearing loss

Hypogonadism in males

Ataxia/poor coordination/imbalance

Advanced bone age

Hepatic dysfunction

Renal anomalies

Mild spasticity (especially lower limbs)

Renal failure

Diabetes mellitus

>15 years

ALMS 1 mutation in 1 allele and/or family history of ALMS

Obesity and/or insulin resistance and/or DM2

Dental crowding/hypodontia/small roots/high arched palate

Vision (legal blindness, history of nystagmus in infancy/childhood, cone and rode dystrophy by ERG)

(History of) DCM/CHF

Left ventricular hypertrophy/congenital heart disease

Hearing loss

Hepatic dysfunction

Hepatic fibrosis

Renal failure

Short stature

Males-hypogonadism

Females-irregular menses and/or hyperandrogenism