0000070.xml

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<Document id="0000070" source="GARD" url="https://rarediseases.info.nih.gov/gard/2096/acrocephalopolydactylous-dysplasia">
<Focus>Acrocephalopolydactylous dysplasia</Focus>
<FocusAnnotations>
	<UMLS>
		<CUIs>
			<CUI>C3495588</CUI>
		</CUIs>
		<SemanticTypes>
			<SemanticType>T047</SemanticType>
		</SemanticTypes>
		<SemanticGroup>Disorders</SemanticGroup>
	</UMLS>
	<Synonyms>
		<Synonym>Elejalde syndrome</Synonym>
	</Synonyms>
</FocusAnnotations>
<QAPairs>
	<QAPair pid="1">
			<Question qid="0000070-1" qtype="symptoms">What are the symptoms of Acrocephalopolydactylous dysplasia ?</Question>
			<Answer>What are the signs and symptoms of Acrocephalopolydactylous dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocephalopolydactylous dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Omphalocele 30% Pancreatic fibrosis 30% Abnormality of the pinna - Ascites - Autosomal recessive inheritance - Craniosynostosis - Cystic renal dysplasia - Enlarged kidneys - Epicanthus - Extrapulmonary sequestrum - Hepatic fibrosis - Hepatomegaly - Hypertelorism - Hypoplasia of the small intestine - Hypoplastic colon - Low-set ears - Micromelia - Oxycephaly - Phenotypic variability - Polysplenia - Postaxial hand polydactyly - Pulmonary hypoplasia - Short neck - Short nose - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.</Answer>
	</QAPair>
</QAPairs>
</Document>