- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: PCS. Frequency: 1/1. (PMID:12913070)
- Acroosteolysis of distal phalanges (feet) (HP:0001870). Evidence: IEA. (OMIM:608612)
- Decreased adipose tissue around neck (HP:0005995): Reduced amount of adipose tissue in the region of the neck. Evidence: IEA. (OMIM:608612)
- Abnormality of the neck (HP:0000464): An abnormality of the neck. Evidence: IEA. (OMIM:608612)
- Osteolytic defects of the distal phalanges of the hand (HP:0009839). Evidence: IEA. (OMIM:608612)
- Bird-like facies (HP:0000320). Evidence: IEA. (OMIM:608612)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: IEA. (OMIM:608612)
- Hyperlipidemia (HP:0003077): An elevated lipid concentration in the blood. Evidence: IEA. (OMIM:608612)
- 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: 1/1. (PMID:12913070)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: PCS. Frequency: 1/1. (PMID:12913070)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: PCS. Frequency: 1/1. (PMID:12913070)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:12913070)
- Mottled pigmentation (HP:0001070): Patchy and irregular skin pigmentation. Evidence: PCS. Frequency: 1/1. Onset: Juvenile onset (HP:0003621). (PMID:12913070)
- Hyperglycemia (HP:0003074): An increased concentration of glucose in the blood. Evidence: IEA. (OMIM:608612)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 1/1. Onset: Juvenile onset (HP:0003621). (PMID:12913070)
- Generalized lipodystrophy (HP:0009064): Generalized degenerative changes of the fat tissue. Evidence: IEA. (OMIM:608612)
- Narrow nasal ridge (HP:0000418): Decreased width of the nasal ridge. Evidence: PCS. Frequency: 1/1. (PMID:12913070)
- Loss of truncal subcutaneous adipose tissue (HP:0009002): Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk. Evidence: IEA. (OMIM:608612)
- Dental crowding (HP:0000678): Changes in alignment of teeth in the dental arch. Evidence: IEA. (OMIM:608612)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. (OMIM:608612)
- Short clavicles (HP:0000894): Reduced length of the clavicles. Evidence: PCS. Frequency: 1/1. (PMID:12913070)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: IEA. (OMIM:608612)
- Progeroid facial appearance (HP:0005328): A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. Evidence: PCS. Frequency: 1/1. (PMID:12913070)
- Insulin-resistant diabetes mellitus (HP:0000831): A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels. Evidence: IEA. (OMIM:608612)
- Dermal atrophy (HP:0004334): Partial or complete wasting (atrophy) of the skin. Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463). (PMID:12913070)
- Brittle hair (HP:0002299): Fragile, easily breakable hair, i.e., with reduced tensile strength. Evidence: PCS. Frequency: 1/1. Onset: Juvenile onset (HP:0003621). (PMID:12913070)
- Loss of facial adipose tissue (HP:0000292): Loss of normal subcutaneous fat tissue in the face. Evidence: PCS. Frequency: 1/1. Onset: Juvenile onset (HP:0003621). (PMID:12913070)
- Delayed cranial suture closure (HP:0000270): Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. Evidence: PCS. Frequency: 1/1. (PMID:12913070)
- Premature loss of teeth (HP:0006480): Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. Evidence: IEA. (OMIM:608612)
- Progressive clavicular acroosteolysis (HP:0000905): Progressive bone resorption in the distal part of the clavicle. Evidence: IEA. (OMIM:608612)
- Death in early adulthood (HP:0100613): Death between the age of 16 and 40 years. Evidence: PCS. Frequency: 1/1. (PMID:12913070)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:12913070)
- Wormian bones (HP:0002645): The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. Evidence: TAS. (OMIM:608612)
- Loss of subcutaneous adipose tissue in limbs (HP:0003635): Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. Evidence: PCS. Frequency: 1/1. Onset: Juvenile onset (HP:0003621). (PMID:12913070)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: IEA. (OMIM:608612)
- Prominent superficial veins (HP:0001015): A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal. Evidence: PCS. Frequency: 1/1. Onset: Juvenile onset (HP:0003621). (PMID:12913070)
- Hypoplasia of teeth (HP:0000685): Developmental hypoplasia of teeth. Evidence: TAS. (OMIM:608612)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. Frequency: 1/1. (PMID:12913070)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:608612)
- Hyperinsulinemia (HP:0000842): An increased concentration of insulin in the blood. Evidence: IEA. (OMIM:608612)
- Glucose intolerance (HP:0001952): Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). Evidence: IEA. (OMIM:608612)
These phenotypes are associated with the disease mandibuloacral dysplasia with type B lipodystrophy (OMIM:608612).