- Oligodactyly (HP:0012165): A developmental defect resulting in the presence of fewer than the normal number of digits. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139)
- Renal agenesis (HP:0000104): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:139)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:139)
- Syndactyly (HP:0001159): Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:139)
- Epiphyseal stippling (HP:0010655): The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:139)
- Hyperkeratosis (HP:0000962): Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139)
- Parakeratosis (HP:0001036): Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139)
- Congenital ichthyosiform erythroderma (HP:0007431): An ichthyosiform abnormality of the skin with congenital onset. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139)
- Congenital onychodystrophy (HP:0008394). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139)
- Epidermal acanthosis (HP:0025092): Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139)
- Verruciform xanthoma (HP:0031517): A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139)
- Aplasia/hypoplasia involving bones of the extremities (HP:0045060). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139)
- Abnormal periungual morphology (HP:0100803): An abnormality of the region around the nails of the fingers or toes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139)
- Morphological central nervous system abnormality (HP:0002011): A structural abnormality of the central nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139)
- Multiple joint contractures (HP:0002828). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139)
- Foam cells (HP:0003651): The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139)
- Scarring alopecia of scalp (HP:0004552). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139)
- Amelia (HP:0009827): Congenital absence (aplasia) of one or more limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:139)
- Polydactyly (HP:0010442): A congenital anomaly characterized by the presence of supernumerary fingers or toes. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:139)
These phenotypes are associated with the disease CHILD syndrome (ORPHA:139).