Craniofaciofrontodigital syndrome

Also known as: Cantu craniofaciofrontodigital syndrome

Definition

Orphanet

Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Macrocephaly Big skull, Increased size of head, Large head, Increased size of skull, Large head circumference, Big head, Large calvaria, Increased size of cranium, Large skull, Big cranium, Large cranium, Big calvaria, Macrocrania, Megacephaly [more] Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Hypertelorism Increased distance between eye sockets, Increased distance between eyes, Increased interpupillary distance, Widely spaced eyes, Excessive orbital separation, Widened interpupillary distance, Ocular hypertelorism, Wide-set eyes [more] Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Abnormal heart morphology Congenital heart defects, Abnormally shaped heart, Cardiac anomalies, Abnormality of cardiac morphology, Abnormality of the heart [more] Any structural anomaly of the heart.
Broad ribs Wide ribs Increased width of ribs
Prominent forehead Protruding forehead, Prominence of frontal region, Pronounced forehead, Bulging forehead [more] Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Proptosis Exophthalmos, Anterior bulging of the globe of eye, Protrusio bulbi, Protruding eyes, Prominent eyes, Anterior bulging of the globe, Bulging eye, Ocular proptosis, Eyeballs bulging out, Prominent globes [more] An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Palmoplantar cutis laxa Wrinkled palms and soles, Furrowed palms and soles, Excessive wrinkled skin of palms and soles, Wrinkled skin of hands and feet, Increased wrinkles of palms and soles [more] Loose, wrinkled skin of hands and feet.
Abnormality of the skeletal system Skeletal anomalies An abnormality of the skeletal system.
Cutis laxa Chalazoderma, Elastolysis, Cutaneous laxity, Hypoelastic skin, Loose skin, Hanging skin, Inelastic skin, Dermatomegaly, Lax skin, Generalized elastolysis, Skin laxity, Dermatochalasia [more] Wrinkled, redundant, inelastic and sagging skin.
Hypoplastic vertebral bodies Small vertebrae, Small vertebral bodies
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

Other Classifiers and IDs