Hypotrichosis-intellectual disability, Lopes type

Also known as: Lopes-Marques de Faria syndrome

Definition

Orphanet

Hypotrichosis-intellectual disability, Lopes type is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Syndactyly Webbed fingers or toes Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "symphalangism".
Advanced eruption of teeth Premature tooth eruption, Early dental eruption, Early eruption of teeth, Premature dental eruption, Advanced dental eruption, Premature eruption of teeth [more] Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.
Hypotrichosis Marked hypotrichosis, Hypotrichosis, infantile, Congenital hypotrichosis [more] Congenital lack of hair growth.
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

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