X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome

Definition

Orphanet

X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Seizures Epilepsy Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.
Single transverse palmar crease Single flexion crease, Transverse palmar crease, Simian line, Single palmar crease, Simian creases [more] The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Decreased antibody level in blood Immunoglobulin deficiency, Hypogammaglobulinemia, Decreased serum immunoglobulin, Reduced immunoglobulin levels, Decreased immunoglobulin level [more] An abnormally decreased level of immunoglobulin in blood.
Progressive neurologic deterioration Progressive mental deterioration, Neurologic deterioration, Progressive neurodegeneration [more]
Mandibular prognathia Enlargement of mandible, Mandibular hyperplasia, Increased projection of lower jaw, Prominent lower jaw, Mandible prognathism, Hypertrophy of lower jaw, Mandibular excess, Increased size of lower jaw, Large mandible, Relative mandibular prognathism, Prominent chin, Enlarged mandible, Prognathism, Prognathia, Macromandible, Big lower jaw, Prominent jaw, Increased size of mandible, Mandibular macrognathia, Mandibular prognathism, Increased projection of mandible, Lower jaw hyperplasia, Prominent mandible, Big mandible, Hypertrophy of mandible, Large lower jaw, Lower jaw excess [more] Abnormal prominence of the chin related to increased length of the mandible.
Hirsutism Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Synophrys Unibrow, Synophris, Monobrow [more] Meeting of the medial eyebrows in the midline.
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.

Other Classifiers and IDs