Branchial cleft anomaly- MedGen UID:
- 36265
- •Concept ID:
- C0079037
- •
- Congenital Abnormality
A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck.
Hypoparathyroidism - X-linked- MedGen UID:
- 87437
- •Concept ID:
- C0342344
- •
- Disease or Syndrome
A rare genetic hypoparathyroidism characterized by severe hypocalcemia, seizures, hyperphosphatemia, and undetectable parathyroid hormone levels, in the absence of parathyroid tissue. Complications include psychomotor and growth delay, delayed dentition, and cataracts.
Congenital absence of cervical vertebra- MedGen UID:
- 140922
- •Concept ID:
- C0432160
- •
- Congenital Abnormality
Agenesis of one or more vertebrae of the cervical vertebral column.
Mandibuloacral dysplasia with type B lipodystrophy- MedGen UID:
- 332940
- •Concept ID:
- C1837756
- •
- Disease or Syndrome
Mandibuloacral dysplasia with type B lipodystrophy (MADB) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. Some patients have a progeroid appearance. Metabolic complications associated with insulin resistance have been reported (Schrander-Stumpel et al., 1992; summary by Simha et al., 2003).
For a general phenotypic description of lipodystrophy associated with mandibuloacral dysplasia, see MADA (248370).
Parotidomegaly, hereditary bilateral- MedGen UID:
- 401477
- •Concept ID:
- C1868590
- •
- Disease or Syndrome
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2- MedGen UID:
- 412914
- •Concept ID:
- C2750234
- •
- Disease or Syndrome
Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and intellectual disability (summary by Gulsuner et al., 2011).
For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050).
Odontotrichomelic syndrome- MedGen UID:
- 443944
- •Concept ID:
- C2930960
- •
- Disease or Syndrome
A rare genetic disease characterized by intellectual disability, growth delay, absence deformities of upper and lower limbs, hypotrichosis, hypoplastic nails, abnormal dentition, abnormal auricles, hypoplastic nipples, thyroid enlargement, and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported. No new cases have been confirmed since 1970.
Emery-Dreifuss muscular dystrophy 1, X-linked- MedGen UID:
- 1720295
- •Concept ID:
- C5243475
- •
- Disease or Syndrome
Emery-Dreifuss muscular dystrophy inherited in an X-linked recessive pattern and caused by mutations in the EMD gene, encoding emerin.