#Investigate anomaly weeping woods skin#

Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental).

Affected individuals may have distinctive facial features, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), or intellectual disability. Additional skeletal abnormalities involving the long bones of the arms and legs or the spinal bones (vertebrae) can also occur. These skeletal malformations are often described as acromelic, meaning that they occur in the bones that are away from the center of the body. Other frequent malformations include fingers or toes that are fused together (syndactyly) or extra fingers or toes (polydactyly). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma). The most common hand and foot malformation seen in ophthalmo-acromelic syndrome is missing fingers or toes (oligodactyly). The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). The features of this condition are present from birth. Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. Despite these complications, the life expectancy for many individuals can be normal. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Life expectancy highly depends on the severity of manifestations mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies.

The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Psychomotor development is usually normal some individuals have cognitive impairment.ĬHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. Occasional findings include dental anomalies, abdominal wall defects, diaphragmatic hernia, and renal anomalies. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, and pointed chin. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Limb malformations include oligo-/syndactyly and split hand/foot. The nails can be ridged, dysplastic, or hypoplastic hair can be sparse or absent.

#Investigate anomaly weeping woods skin#

Verrucoid papillomas of the skin and mucous membranes may appear later. Skin manifestations present at birth include atrophic and hypoplastic areas of skin cutis aplasia fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules and pigmentary changes.

Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face.