Cleft lip panel, cleft palate and associated syndromes. 16-gene NGS panel.

Imported from OMIM

Fibrochondrogenesis is a severe, autosomal recessive, short-limbed skeletal dysplasia clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Radiographically, the long bones are short and have broad metaphyseal ends, giving them a dumb-bell shape. The vertebral bodies are flat and, on lateral view, have a distinctive pinched appearance, with a hypoplastic posterior end and a rounded anterior end. The ribs are typically short and wide and have metaphyseal cupping at both ends (summary by Tompson et al., 2010). Genetic Heterogeneity of Fibrochondrogenesis Fibrochondrogenesis-2 (FBCG2; 614524) is caused by mutation in the COL11A2 gene (120290) on chromosome 6p21.3.

Imported from Human Phenotype Ontology (HPO)

• Proptosis
• Patent foramen ovale
• Hydrops fetalis
• Narrow mouth
• Joint contracture of the hand
• Frontal bossing
• Low-set ears
• Megalocornea
• Long clavicles
• Short ribs
• Thin ribs
• Short neck
• Narrow greater sciatic notch
• Thin clavicles
• Small hand
• Camptodactyly
• Congenital omphalocele
• Abnormal pinna morphology
• Fibular hypoplasia
• Depressed nasal bridge
• Broad ischia
• Hypoplastic toenails
• Thoracic hypoplasia
• Posterior rib cupping
• Anteverted nares
• Short palm
• Platyspondyly
• Anterior rib cupping
• Hypoplastic scapulae
• Short foot
• Clinodactyly of the 5th finger
• Flat face
• Short nose
• Short long bone
• Protuberant abdomen
• Widely patent coronal suture
• Widely patent sagittal suture
• Posterior vertebral hypoplasia
• Hypoplastic fingernail
• Malar flattening
• Hypoplastic ischia
• Long philtrum
• Wide anterior fontanel
• Rhizomelia
• Dumbbell-shaped long bone
• Cleft palate
• Broad long bones