| MCA/MR | multiple congenital anomaly/mental retardation [syndrome] |
|---|---|
| AAS | Aarskog-Scott [syndrome]; acid aspiration syndrome; alcoholic abstinence syndrome; American Academy ... |
| ABS | abdominal surgery; acute brain syndrome; Adaptive Behavior Scale; admitting blood sugar; adult bovin... |
| BBS | Barolet-Biedl syndrome; bashful bladder syndrome; benign breast syndrome; bilateral breath sounds; b... |
| CCS | Canadian Cardiovascular Society; casualty clearing station; cell cycle specific; cholecystosonograph... |
| heart defects, congenital | Imperfections or malformations of the heart, existing at birth. (12 Dec 1998) |
|---|---|
| hip dislocation, congenital | Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dysplasia, and complete dislocation of the femoral head from the true acetabulum. This condition occurs in approximately 1 in 1000 live births and is more common in females than in males. (12 Dec 1998) |
| hyperostosis, cortical, congenital | A disease of young infants characterised by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation. (12 Dec 1998) |
| nonbullous congenital ichthyosiform erythroderma | Erythroderma or a collodion membrane at birth, usually without improvement during childhood, characterised by proliferation of epidermal keratinocytes with lipid accumulation; autosomal recessive inheritance. (05 Mar 2000) |
| syphilis, congenital | Syphilis acquired in utero and manifested by any of several characteristic tooth (hutchinson's teeth) or bone malformations and by active mucocutaneous syphilis at birth or shortly thereafter. Ocular and neurologic changes may also occur. (12 Dec 1998) |
| disease, congenital heart | A birth defect of the heart or great blood vessels (like the aorta). (12 Dec 1998) |
| double congenital athetosis | A type of cerebral palsy manifested predominantly as bilateral involuntary movements, beginning at about the age of 3 years, and preceded by generalised hypotonia and delayed motor development. Due to various causes, including kernicterus and birth hypoxia. Synonym: congenital choreoathetosis, double congenital athetosis, Vogt syndrome. (05 Mar 2000) |
| ichthyosiform erythroderma, congenital | Designation for several severe forms of ichthyosis, present at birth, that are characterised by hyperkeratotic scaling. Infants may be born encased in a collodion membrane which begins shedding within 24 hours. This is followed in about two weeks by persistent generalised scaling. The forms include bullous (hyperkeratosis, epidermolytic), non-bullous (ichthyosis, lamellar), wet type, and dry type. (12 Dec 1998) |
| toxoplasmosis, congenital | Congenital infection with toxoplasma gondii characterised by lesions of the central nervous system. (12 Dec 1998) |
| foot deformities, congenital | Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth. (12 Dec 1998) |
| limb deformities, congenital | Congenital structural deformities of the upper and lower extremities collectively or unspecified. (12 Dec 1998) |
| Aarskog-Scott syndrome | A syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag scrotum, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; X-linked and autosomal dominant forms. Synonym: Aarskog-Scott syndrome. (05 Mar 2000) |
| Aarskog syndrome | <syndrome> Grier et al. (1983) reported father and 2 sons with typical Aarskog syndrome, including short stature, hypertelorism, and shawl scrotum. They tabulated the findings in 82 previous cases. X-linked recessive inheritance has been repeatedly suggested. The family reported by Welch (1974) had affected males in 3 consecutive generations. Thus, there is either genetic heterogeneity or this is an autosomal dominant with strong sex-influence and possibly ascertainment bias resulting from use of the shawl scrotum as a main criterion. Stretchable skin was present in the cases of Grier et al. (1983). Teebi et al. (1993) reported the case of an affected mother and 4 sons (including a pair of monozygotic twins) by 2 different husbands. They suggested that the manifestations were as severe in the mother as in the sons and that this suggested autosomal dominant inheritance. Actually, the mother seemed less severely affected, compatible with X-linked inheritance. Clinical signs: Mild to moderate short stature,normocephaly, Widow's peak hair, maxillary hypoplasia, broad nasal bridge, anteverted nostrils, long philtrum, broad upper lip, curved linear dimple below the lower lip, hypertelorism, ptosis, down-slanted palpebral fissures, ophthalmoplegia, strabismus, hyperopic astigmatism, large cornea, floppy ears, lop-ears,cleft lip/palate, shawl scrotum, saddle-bag scrotum, cryptorchidism, brachydactyly, digital contractures, clinodactyly, mild syndactyly, transverse palmar crease, lymphoedema of the feet, ligamentous laxity, osteochondritis dissecans, proximal finger joint hyperextensibility, flexed distal finger joints, genu recurvatum, flat feet, stretchable skin, cervical spine hypermobility, odontoid anomaly, macrocytic anaemia, hemochromatosis, hepatomegaly, portal cirrhosis, imperforate anus, rectoperineal fistula, interstitial pulmonary disease, sternal deformity. Inheritance: Sex-influenced autosomal dominant form, also X-linked form. (05 Aug 1998) |
| abdominal muscle deficiency syndrome | <syndrome> Congenital absence (partial or complete) of abdominal muscles, in which the outline of the intestines is visible through the protruding abdominal wall; in males, genitourinary anomalies (urinary tract dilation and cryptorchidism) are also found; genetics unclear. (05 Mar 2000) |
| abstinence syndrome | <syndrome> A constellation of physiologic changes undergone by persons or animals who have become physically dependent on a drug or chemical due to prolonged use at elevated doses, but who are abruptly deprived of that substance. The abstinence syndrome varies with the drug to which dependence has developed. Generally the effects observed are in an opposite direction from those produced by the drug; e.g., the withdrawal syndrome from central nervous system depressants such as barbiturates and benzodiazepines consists of insomnia, restlessness, tremulousness, hallucinations, and, in the extreme, tonic-clonic convulsions which may prove fatal. The onset time and severity of the abstinence syndrome depend upon how rapidly the drug disappears from the body. (05 Mar 2000) |