Proud Levine Carpenter syndrome
Overview
A very rare syndrome characterized mainly by abnormal brain development, a small head and genital abnormalities.
Symptoms
* Abnormal brain development (corpus callosum or pellucidum) * Short stature * Small head * Mental retardation * Spasticity * Seizures * Prominent ears * Nystagmus * Increased body hair * Coarse face * Dislocated hip * Low frontal hair line * Scoliosis * Weak eye muscles * Thin fingers * Joined eyebrows * Prominent eyebrow * Eye problems * Undescended testes * Abnormal nails * Large eyes * Limb contractures
Causes
* Lison syndrome * Phosphoethanolaminuria * Allan-Herndon-Dudley syndrome * Pseudoprogeria syndrome * Dyggve-Melchior-Clausen dysplasia * Holoprosencephaly * Mevalonate kinase deficiency * Sutherland-Haan syndrome * Chromosome 4 ring syndrome * Aicardi Goutieres syndrome * Feingold syndrome * Galloway-Mowat syndrome * Pyruvate dehydrogenase deficiency * Rubinstein-Taybi syndrome * Alpha thalassaemia X-linked mental retardation syndrome * X-linked mental retardation-hypotonic facies syndrome * GOMBO syndrome * BRESHECK syndrome * Cayler cardiofacial syndrome * Cockayne syndrome * Velocardiofacial syndrome * Meckel-Gruber syndrome * Cornelia de Lange syndrome * Langer-Giedion syndrome * Angelman's syndrome * Wiedemann-Beckwith syndrome * CHARGE syndrome * Chromosome 18 trisomy syndrome * Lathosterolosis * Seemanova-Lesny syndrome * Chromosome 9 trisomy syndrome * Otopalatodigital syndrome type 2 * Smith-McCort dysplasia * 49,XXXXX syndrome * Taybi-Linder syndrome * Cerebrocostomandibular syndrome * Fanconi anaemia * Pseudotoxoplasmosis syndrome * Methylenetetrahydrofolate reductase deficiency * Neu-Laxova syndrome * Fetal aminopterin-like syndrome * Wrinkly skin syndrome * Cri du chat syndrome 5p− * Wolf-Hirschhorn syndrome * Hischsprung disease-microcephaly-mental retardation syndrome * Corpus callosum agenesis type 2 * Pelizaeus-Merzbacher disease * Leprechaunism * Seemanova syndrome 1 * Fumarase deficiency * Worster-Drought syndrome * Alpha-thalassemia/mental retardation syndrome, deletion type * Osteoporosis-pseudoglioma syndrome * Incontinentia pigmenti * Progressive encephalopathy-edema-hypsarrhythmia-optic atrophy syndrome * Hoyeraal-Hreidarsson syndrome * Yunis-Varon syndrome * Seckel's syndrome * Ceroid lipofuscinosis, neuronal 1, infantile * Cohen syndrome * Norman-Roberts syndrome * Cantu syndrome * Lowry-Wood syndrome * Smith-Lemli-Opitz syndrome * Lenz microphthalmia syndrome * Mirhosseini-Holmes-Walton syndrome * Chromosome 6 ring syndrome * Toxoplasma, congenital * Nijmegen chromosome breakage syndrome * CAMFAK syndrome * Pitt-Rogers-Danks syndrome * Marden-Walker syndrome * Waardenburg syndrome type 3
Diagnosis
signs and symptoms of Proud-Levine-Carpenter syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Proud-Levine-Carpenter syndrome symptoms.