Hamamy syndrome (sequence analysis of IRX5 gene)

A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2. [from SNOMEDCT_US]

Imported from Human Phenotype Ontology (HPO)

• Hypochromic anemia
• Blepharophimosis
• Craniosynostosis syndrome
• Cryptorchidism
• Enamel hypoplasia
• Recurrent fractures
• Sensorineural hearing loss disorder
• Atrial septal defect
• Inguinal hernia
• Hypertelorism
• Partial congenital absence of teeth
• Hypoparathyroidism
• Wide mouth
• Dental malocclusion
• Micrognathia
• Mitral regurgitation
• Osteopenia
• Syndactyly
• Complete atrioventricular canal
• Brachycephaly
• Prolonged QRS complex
• Low-set ears
• Hyperplasia of midface
• High palate
• High myopia
• Telecanthus
• Tapered finger
• Global developmental delay
• Smooth philtrum
• Sparse eyebrow
• Prominent forehead
• Anteverted nares
• Sparse eyelashes
• Wide nasal bridge
• Neck pterygia
• Clinodactyly of the 5th finger
• Everted lower lip vermilion
• Low posterior hairline
• Down-sloping shoulders
• Sparse lateral eyebrow
• Long fingers
• Preauricular skin tag
• Short 2nd finger
• Long philtrum
• Thin upper lip vermilion
• Pectus excavatum
• Moderate global developmental delay
• Long toe
• Intellectual disability
• Abnormal number of hair whorls
• Developmental dysplasia of the hip
• Microcytic anemia
• Sparse hair