Acrocephalopolydactylous Dysplasia

differentiate from Elejalde disease = Neuroectodermal melanolysosomal disease

Also Known As:

Elejalde syndrome

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

1.	Griscelli syndrome type 1
2.	Thanatophoric Dysplasia (Dwarfism, Thanatophoric)
3.	Synostosis
4.	Seizures (Absence Seizure)
5.	Muscle Hypotonia (Hypotonia)

1.	Asal, Gülten Türkkanı: 1 article (10/2012)
2.	Cağdaş, Deniz: 1 article (10/2012)
3.	Lambert, Nathalie: 1 article (10/2012)
4.	Metin, Ayşe: 1 article (10/2012)
5.	Ozgür, Tuba Turul: 1 article (10/2012)
6.	Sanal, Ozden: 1 article (10/2012)
7.	Tezcan, Ilhan: 1 article (10/2012)
8.	de Saint Basile, Geneiveve: 1 article (10/2012)
9.	Hashimoto, Kouichi: 1 article (04/2011)
10.	Hirashima, Naohide: 1 article (04/2011)

Drugs and Important Biological Agents (IBA) related to Acrocephalopolydactylous Dysplasia:

1.	Myosins (Myosin)IBA 04/20/2011 - "Mutations of the myosin Va gene cause the neurological diseases Griscelli syndrome type 1 and Elejalde syndrome in humans and dilute phenotypes in rodents. " 09/01/2004 - "Thus, myosin Va is required for normal photoreceptor signalling, suggesting that it might function in central nervous system synapses in general, with aberrant synaptic activity potentially underlying the neurological defects observed in dilute lethal mice and patients with Griscelli syndrome type 1 and Elejalde syndrome."
2.	SilverIBA 01/01/2023 - "Some authors suggest that Elejalde syndrome is synonymous with GS Type 1. Here, we report two cases who presented with silver-gray hair but with varied clinical manifestations. "
3.	Retinaldehyde (Retinal)IBA 10/01/2012 - "The neurological deficits in Elejalde syndrome were reported as severe neurodevelopmental delay, seizures, hypotonia, and ophthalmological problems including nystagmus, diplopia, and retinal problems. "