craniofrontonasal dysplasia-Poland anomaly syndrome

ORPHA: 1521

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with craniofrontonasal dysplasia-Poland anomaly syndrome, sourced from HPO and Orphanet clinical annotations.

HypertelorismWide noseBroad nasal tipCraniosynostosisMidline nasal grooveAplasia/Hypoplasia involving bones of the skullBifid uterusWide mouthShort lingual frenulumHigh palateWebbed neckStrabismusSyndactylyAbnormal fingernail morphologyPlagiocephalyAplasia/Hypoplasia involving the shoulder musculatureDiastasis rectiLow posterior hairlineSupernumerary nippleUnilateral brachydactylyAplasia/Hypoplasia of the nipplesAsymmetry of the naresUnilateral hypoplasia of pectoralis major muscleAbnormal reproductive system morphologyVertical orbital dystopiaSparse eyebrow

Classification & Codes

Orphanet Code

ORPHA:1521
craniofrontonasal dysplasia-Poland anomaly syndrome
OrphanetORPHA:1521
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO