trigonocephaly-bifid nose-acral anomalies syndrome
MONDO:0010154
Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges.
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Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
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Trigonocephaly-bifid nose-acral anomalies syndrome
Trigonocephaly-bifid nose-acral anomalies syndrome is a very rare genetic disorder which is characterized by trigonobrachycephaly, narrow forehead, up-ward slanting palpebral fissures, bulbous, slightly bifid nose, macrostomia, thin upper lip, macrognathia (facial dysmorphisms), broad thumbs, rather large toes, broad fingertips with short nail beds, joint hypermobility and fifth finger clinodactyly (acral). Additional findings include short height, hypotonia and severe psychomotor retardation. It has been described in a brother and a sister born to healthy consanguineous Palestinian Arab parents.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.