deformity skull

difficulty walking, headache, poor coordination, vision problems

Head injury is a trauma to the head, that may or may not include injury to the brain (see also brain injury). ... 

blister(s) or bump(s) on skin, impaired sensations in foot (feet), lump or swelling in groin in males, stomach pain

headache, poor coordination, vision problems, vomiting

Hydrocephalus, sometimes known as Water on the Brain, is a condition in which abnormal accumulation of cerebrospinal fluid (CSF) in the brain causes increased intracranial pressure inside the skull. This is usually due to blockage of CSF outflow in the brain ventricles or in the subarachnoid space at the base of the brain. ... 

dizziness, paleness, stomach pain, upper abdominal pain

Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule.Most clinically significant hemoglobinopathies cause mild to acute anemia, in rare cases hemolytic anemia. Symptoms vary for the different diseases: in sickle cell disease the red blood cells tend to assume a different shape under anaerobic conditions, leading to organ damage and circulatory problems, while in thalassemia there is ineffective production of red blood cells (erythropoiesis). ... 

blister(s) or bump(s) on back, cafe au lait spots, lump(s) in skin, pelvic pain

Neurofibromatosis type I (NF-1), also known as von Recklinghausen syndrome, comprises, along with neurofibromatosis type II (a.k.a. MISME syndrome), tuberous sclerosis, Sturge-Weber, and Von Hippel-Lindau disease, the phakomatoses or neurocutaneous syndromes, all of which have both neurologic and dermatologic lesions. This grouping is an artifact of an earlier time in medicine, before the distinct genetic basis of each of these disorders was understood. ... 

dental problems, not gaining weight, pain in several joints, poor appetite

Hypophosphatasia is a rare inherited metabolic disease of decreased tissue nonspecific alkaline phosphatase (TNSALP) and defective bone mineralization. Both autosomal recessive and autosomal dominant variants of the disease exist. The disease comes in one of five forms, perinatal, infantile, childhood, adult, and odontohypophosphatasia. Perinatal hypophosphatasia is invariably lethal while infantile hypophosphatasia has a roughly 50% mortality rate with symptoms appearing within the first 6th months after birth. The other forms are generally non-lethal. Common symptoms include bone malformations and higher chance of bone fracture. Both the adult form and odontohypophosphatasial form are marked by premature teeth loss. ... 

bones break easily, difficulty walking

Osteogenesis imperfecta (sometimes known as Brittle Bone Disease) is a group of genetic bone disorders. It is one of the brittle bone diseases. People with OI either have less collagen than normal or the quality is poorer than normal. As collagen is an important protein in bone structure, this impairment causes those with the condition to have weak or fragile bones. ... 

delayed development, face deformities, learning problems, short stature

Jacobsen Syndrome, also known as 11q deletion, is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1. It can cause mild mental retardation, a distinctive facial appearance, and a variety of physical problems including heart defects and a bleeding disorder. The syndrome was first identified by Danish physician Petra Jacobsen in 1973, and is believed to occur in approximately 1 out of every 100,000 births. ... 

increased thirst, muscle cramps, muscle weakness in leg(s), urinating large amounts

Fanconi syndrome (also known as Fanconi's syndrome) is a disorder in which the proximal tubular function of the kidney is impaired, resulting in decreased reabsorption of electrolytes and nutrients back into the bloodstream. Compounds involved include glucose, amino acids, uric acid, phosphate and bicarbonate. ... 

decreased sexual desire in males, dental problems, paleness, urinating large amounts

Hypopituitarism is a medical term describing the deficiency (hypo) of one or more hormones of the pituitary gland. The hypothalamus regulates pituitary secretion by the production of releasing hormones and posterior pituitary hormones and hence its dysfunction can also lead to hypopituitarism. ...