Synonym(s): - Cleidocranial dysplasia - micrognathia - absent thumbs
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: C536719
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
FIG4	Q92562	609390

- Absent / decreased lashes
- Absent / decreased / thin eyebrows
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Anteverted nares / nostrils
- Antihelix anomaly
- Aphalangia / hands and feet phalangeal bones absence / hypoplasia / aplasia
- Autosomal recessive inheritance
- Distal phalangeal bones of toes hypoplasia / absence
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Glossoptosis
- High vaulted / narrow palate
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Large fontanelle / delayed fontanelle closure
- Loose skin / skin relaxation / excess skin / creases
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow / sloping shoulders
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Poorly ossified skull / calvarium
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short philtrum
- Simian crease / transverse / unique palmar crease
- Small / hypoplastic / adherent / absent ear lobe
- Sternal / sternum anomalies
- Stillbirth / neonatal death
- Terminal / third phalangeal bone of fingers hypoplasia
- Thin / retracted lips
- Thumb hypoplasia / aplasia / absence

- Blepharophimosis / short palpebral fissures
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Clavicle absent / abnormal
- Corpus callosum / septum pellucidum total / partial agenesis
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microcephaly
- Micropenis / small penis / agenesis
- Mid-facial hypoplasia / short / small midface
- Proptosis / exophthalmos
- Short stature / dwarfism / nanism

- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Aniridia / iris hypoplasia
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cardiomyopathy / hypertrophic / dilated
- Cataract / lens opacification
- Corneal clouding / opacity / vascularisation
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dilated cerebral ventricles without hydrocephaly
- Dry / squaly skin / exfoliation
- Epicanthic folds
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypoplastic / absent nipples
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Mutiple fractures / bone fragility
- Nystagmus
- Pulmonary hypertension
- Retinopathy
- Sclerocornea
- Tetralogy of Fallot / trilogy of Fallot
- Ventricular septal defect / interventricular communication