Phenotypes associated with the disease CHILD syndrome (OMIM:308050):
- Congenital hip dislocation (HP:0001374). Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:10710233)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:308050)
- Hypoplastic scapulae (HP:0000882): Underdeveloped scapula. Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:308050)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. (OMIM:308050)
- Short stature (HP:0004322): 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). Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:12668600)
- Unilateral renal agenesis (HP:0000122): A unilateral form of agenesis of the kidney. Evidence: PCS. Frequency: 1/1. (PMID:32819291)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:10710233)
- 2-5 finger cutaneous syndactyly (HP:0005650): A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints. Evidence: PCS. Frequency: 1/1. (PMID:33139364)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: PCS. Frequency: 1/1. (PMID:33139364)
- Stillbirth (HP:0003826): Death of the fetus in utero after at least 22 weeks of gestation. Evidence: TAS. (OMIM:308050)
- Adrenal hypoplasia (HP:0000835): Developmental hypoplasia of the adrenal glands. Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:308050)
- Aplasia/Hypoplasia involving the central nervous system (HP:0002977): Absence or underdevelopment of tissue in the central nervous system. Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:308050)
- Aplasia of the distal phalanx of the 3rd finger (HP:0009429): Absence of the distal phalanx of the middle (3rd) finger. Evidence: PCS. Frequency: 1/1. (PMID:33139364)
- Vertebral hypoplasia (HP:0008417): Small, underdeveloped vertebral bodies. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:10710233)
- Nevus (HP:0003764): A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. Evidence: PCS. Frequency: 1/2. (PMID:10710235)
- Hypoplastic pelvis (HP:0008839): Underdevelopment of the bony pelvis. Evidence: PCS. Frequency: 12/20. (OMIM:308050)
- 4-5 toe syndactyly (HP:0004692): Syndactyly with fusion of toes four and five. Evidence: PCS. Frequency: 1/1. (PMID:33139364)
- Epidermal acanthosis (HP:0025092): Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). Evidence: PCS. Frequency: 1/2. (PMID:10710235)
- Absent toe (HP:0010760): Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. Evidence: PCS. Frequency: 2/2. (PMID:10710235)
- Congenital ichthyosiform erythroderma (HP:0007431): An ichthyosiform abnormality of the skin with congenital onset. Evidence: PCS. Frequency: Obligate (HP:0040280). (PMID:12668600)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: TAS. (OMIM:308050)
- Absent middle phalanx of 2nd finger (HP:0009576): Absence of the middle phalanx of the index (2nd) finger. Evidence: PCS. Frequency: 1/1. (PMID:33139364)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, 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 in a proximo-distal axis are referred to as "Symphalangism". Evidence: PCS. Frequency: 1/1. (PMID:32819291)
- Mild intrauterine growth retardation (HP:0008883): Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age. Evidence: TAS. (OMIM:308050)
- Cleft upper lip (HP:0000204): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: TAS. (OMIM:308050)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: TAS. (OMIM:308050)
- 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: PCS. Frequency: 2/2. (PMID:10710235)
- Abnormal cardiac septum morphology (HP:0001671): An anomaly of the intra-atrial or intraventricular septum. Evidence: TAS. (OMIM:308050)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:33139364;PMID:10710235)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: PCS. Frequency: 1/1. (PMID:33139364)
- 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: PCS. Frequency: 2/3. (PMID:33139364;PMID:10710235)
- Pulmonary hypoplasia (HP:0002089). Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:12668600)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:12668600)
- Single ventricle (HP:0001750): The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle. Evidence: TAS. (OMIM:308050)
- Thyroid hypoplasia (HP:0005990): Developmental hypoplasia of the thyroid gland. Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:308050)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: PCS. Frequency: 1/1. (PMID:33139364)
- Orthokeratosis (HP:0040162): Formation of an anuclear keratin layer. Evidence: PCS. Frequency: 1/1. (PMID:33139364)
- Aplasia of the distal phalanx of the 2nd finger (HP:0009565). Evidence: PCS. Frequency: 1/1. (PMID:33139364)
- X-linked dominant inheritance (HP:0001423): A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. Evidence: PCS. (PMID:10710235)
- Short clavicles (HP:0000894): Reduced length of the clavicles. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:10710233)
- Short ribs (HP:0000773): Reduced rib length. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:10710233)
- Epidermal nevus (HP:0010816): Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood. Evidence: PCS. Frequency: 1/2. (PMID:10710235)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:10710233)
- Elevated 8(9)-cholestenol (HP:0003465). Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:10710233)
- Elevated 8-dehydrocholesterol (HP:0003462). Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:10710233)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 1/1. (PMID:33139364)
- Epiphyseal stippling (HP:0010655): The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. Evidence: PCS. Frequency: Very frequent (HP:0040281). Onset: Infantile onset (HP:0003593). (PMID:12668600)
- Absent middle phalanx of 3rd finger (HP:0009438): Absence of the middle phalanx of the middle (3rd) finger. Evidence: PCS. Frequency: 1/1. (PMID:33139364)
- 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: PCS. Frequency: 1/1. (PMID:33139364)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:308050)