Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Acrodysostosis-1 (ACRDYS1) is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012).
Genetic Heterogeneity of Acrodysostosis
See also ACRDYS2 (614613), caused by mutation in the PDE4D gene (600129) on chromosome 5q12.
- Congenital hypothyroidism
- Cryptorchidism
- Fetal growth restriction
- Hydrocephalus
- Hypertelorism
- Partial congenital absence of teeth
- Hypogonadism
- Dental malocclusion
- Melanocytic nevus
- Optic atrophy
- Scoliosis
- Strabismus
- Hyperphosphatemia
- Irregular menstruation
- Brachycephaly
- Brachydactyly
- Small for gestational age
- Delayed eruption of teeth
- Hypoplasia of the maxilla
- Broad palm
- Dislocated radial head
- Unilateral renal agenesis
- Short stature
- Mandibular prognathia
- Broad nasal tip
- Accelerated skeletal maturation
- Blue irides
- Elevated circulating thyroid-stimulating hormone concentration
- Epicanthus
- Elevated circulating parathyroid hormone level
- Short phalanx of finger
- Hearing impairment
- Narrow vertebral interpedicular distance
- Mild postnatal growth retardation
- Depressed nasal bridge
- Short metacarpal
- Anteverted nares
- Short palm
- Short metatarsal
- Disproportionate short-limb short stature
- Midface retrusion
- Epiphyseal stippling
- Cone-shaped epiphyses of the phalanges of the hand
- Spinal canal stenosis
- Calvarial hyperostosis
- Hypoplastic vertebral bodies
- Long hallux
- Elevated circulating calcitonin concentration
- Intellectual disability
- Mild global developmental delay
- Neonatal epiphyseal stippling
- Decreased growth hormone responses to growth hormone-releasing hormone challenge
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This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.
Citations
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