Severe achondroplasia with developmental delay and acanthosis nigricans
Overview
A very rare inherited disorder characterized by abnormal bone development and brain and skin abnormalities.
Symptoms
* Very short stature * Short arms * Short legs * Bowed leg bones * Small chest * Short ribs * Curved collar bones * Short fingers * Broad fingers * Extra skin folds on legs * Extra skin folds on arms * Structural brain abnormalities * Seizures * Severe developmental delay * Mental retardation * Apnea * Acanthosis nigricans * Thick, dark, velvety areas of skin
Causes
1. Grossmotor delay 1. Cerebralpalsy 2. Neuromuscular disorders 2. Delayed or impaired language 1. Impairedhearing 2. Receptive and expressive language disorders 3. Pervasive developmental disorders 3. Static global delay 1. Chromosomaldisturbances 2. Maternal or infant undernutrition 3. Maternal drug or alcohol use 4. Cerebral malformation 5. Hypoxic-ischemic encephalopathy 6. Intracranial hemorrhage 7. Infection 8. Brain tumor 9. Cerebrovascular disorders 10. Psychologic disturbances 11. Unknown 4. Progressive global delay 1. Neurocutaneousdisorders 1. Tuberoussclerosis 2. Neurofibromatosis 2. Metabolic brain disorders 1. Diseasesprimarily affecting gray matter (without visceral storage) 1. GM-2 gangliosidosis(Tay-Sachs disease) 2. Neuronal ceroid lipofuscinoses 3. Alpers disease 4. Menkes disease 5. Rett syndrome 2. Diseases primarily affecting gray matter(with visceral storage) 1. GM-1 gangliosidosis 2. GM-2 gangliosidosis (Sandhoff disease) 3. Niemann-Pick disease 4. Gaucher disease 5. Fucosidosis 6. Sialidosis type II 3. Diseases primarily affecting whitematter 1. Galactosemia 2. Phenylketonuria 3. Maple syrup urine disease (intermediate) 4. Homocystinuria 5. Urea cycle defects 6. Canavan disease 7. Alexander disease 8. Globoid leukodystrophy (Krabbe disease) 9. Pelizaeus-Merzbacher disease 10. Metachromatic leukodystrophy 4. Diseases affecting both gray and whitematter 1. Mucopolysaccharidoses 1. Mucopolysaccharidosistype I (Hurler disease) 2. Mucopolysaccharidosis type II (Hunterdisease) 3. Mucopolysaccharidosis type III (Sanfilippodisease) 4. Mucopolysaccharidosis type VII (Slydisease) 2. Mitochondrial disorders 3. Peroxisomal disorders 5. Miscellaneous 1. Lesch-Nyhan syndrome 3. Congenital hypothyroidism 4. Human immunodeficiency virus infection
Diagnosis
* Concentration -- Home Testing * ADHD -- Home Testing * Cold & Flu: Home Testing: * Home Fever Tests * Home Ear Infection Tests * Home Flu Tests * Mental Health: Home Testing: * Home Emotional Stress Tests