The most prominent feature of<unk>  is proportional small size. The small size is apparent in utero. At birth, neonates exhibit rostral to caudal lengths, head circumferences, and birth weights that are typically below the third percentile. The second most commonly noted feature is a rash on the face that develops early in life as a result of sun exposure. The facial rash appears most prominently on the cheeks, nose, and around the lips. It is described as erythematous, that is red and inflamed, and telangiectatic, that is characterized by dilated<unk>  vessels at the skin's surface. The rash commonly also affects the backs of the hands and neck, and it can develop on any other sun-exposed areas of the skin. The rash is variably expressed, being present in a majority but not all persons with<unk> , and it is on average less severe in females than in males. Moreover, the sun sensitivity can resolve in adulthood. There are other dermatologic changes, including hypo-pigmented and hyper-pigmented areas, cafe-au-lait spots, and telangiectasias, which can appear on the face and on the ocular surface. There is a characteristic facial appearance that includes a long, narrow face; prominent nose, cheeks, and ears; and micrognathism or undersized jaw. The voice is high-pitched and squeaky. An individual with<unk>  There are a variety of other features that are commonly associated with<unk> . There is a moderate immune deficiency, characterized by deficiency in certain immunoglobulin classes and a generalized proliferative defect of B and T cells. The immune deficiency is thought to be the cause of recurrent pneumonia and middle ear infections in persons with the syndrome. Infants can exhibit frequent gastrointestinal upsets, with reflux, vomiting, and diarrhea, and there is a remarkable lack in interest in food. There are endocrine disturbances, particularly abnormalities of carbohydrate metabolism, insulin resistance and susceptibility to type 2 diabetes, dyslipidemia, and compensated hypothyroidism. Persons with<unk>  exhibit a paucity of subcutaneous fat. There is reduced fertility, characterized by a failure in males to produce sperm (azoospermia) and premature cessation of menses (premature menopause) in females. Despite these reductions, several women with<unk>  have had children, and there is a single report of a male with<unk>  bearing children. Although some persons with<unk>  can struggle in school with subjects that require abstract thought, there is no evidence that intellectual disability is more common in<unk>  than in other people. The most serious and frequent complication of<unk>  is cancer. In the 281 persons followed by the<unk>  Registry, 145 persons (51.6%) have been diagnosed with a malignant neoplasm, and there have been 227 malignancies. The types of cancer and the anatomic sites at which they develop resemble the cancers that affect persons in the general population. The age of diagnosis for these cancers is earlier than for the same cancer in normal persons. And many persons with<unk>  have been diagnosed with multiple cancers. The average life span is approximately 27 years. The most common cause of death in<unk>  is from cancer. Other complications of the disorder include chronic obstructive lung disease and type 2 diabetes. There are a variety of excellent sources for more detailed clinical information about<unk> . There is a closely related entity that is now referred to as<unk> -like disorder <unk> LD) which is caused by mutations in components of the same protein complex to which the BLM gene product belongs, including TOP3A, which encodes the type I topoisomerase, topoisomerase 3 alpha, RMI1, and RMI2. The features of<unk> LD include small size and dermatologic findings, such as cafe-au-lait spots, and the presence of the once pathognomonic elevated SCEs is reported for persons with mutations in TOP3A and RMI1.<unk>  shares some features with Fanconi anemia possibly because there is overlap in the function of the proteins mutated in this related disorder.
Bloom syndrome
Plummer–Vinson syndrome
Schnitzler syndrome
Secretan's syndrome
Galloway Mowat syndrome
Mucus fishing syndrome
Naegeli–Franceschetti–Jadassohn syndrome
König's syndrome