- Increased facial adipose tissue (HP:0000287): An increased amount of subcutaneous fat tissue in the face. Evidence: IEA. (OMIM:248370)
- Bird-like facies (HP:0000320). Evidence: IEA. (OMIM:248370)
- Hyperlipidemia (HP:0003077): An elevated lipid concentration in the blood. Evidence: IEA. (OMIM:248370)
- 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: IEA. (OMIM:248370)
- Hyperglycemia (HP:0003074): An increased concentration of glucose in the blood. Evidence: PCS. Frequency: 0/9. (PMID:12075506)
- Onychogryphosis (HP:0001805): Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature. Evidence: PCS. Frequency: 1/1. (PMID:14627682)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:14627682)
- Dental crowding (HP:0000678): Changes in alignment of teeth in the dental arch. Evidence: PCS. Frequency: 10/10. (PMID:14627682;PMID:12075506)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: IEA. (OMIM:248370)
- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: PCS. Frequency: 10/10. (PMID:14627682;PMID:12075506)
- Down-sloping shoulders (HP:0200021): Low set, steeply sloping shoulders. Evidence: PCS. Frequency: 1/1. (PMID:14627682)
- 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:248370)
- Dermal atrophy (HP:0004334): Partial or complete wasting (atrophy) of the skin. Evidence: IEA. (OMIM:248370)
- Calcinosis (HP:0003761): Formation of calcium deposits in any soft tissue. Evidence: PCS. Frequency: 1/1. (PMID:16278265)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: PCS. Frequency: 9/9. (PMID:12075506)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: PCS. Frequency: 1/1. (PMID:14627682)
- Coxa valga (HP:0002673): Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). Evidence: PCS. Frequency: 1/1. (PMID:14627682)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: PCS. Frequency: 1/1. (PMID:14627682)
- Impaired glucose tolerance (HP:0040270): An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose. Evidence: PCS. Frequency: 9/9. (PMID:12075506)
- Camptodactyly (HP:0012385): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: PCS. Frequency: 1/1. (PMID:14627682)
- 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:12075506)
- Reduced subcutaneous adipose tissue (HP:0003758): A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. Evidence: PCS. Frequency: 9/9. (PMID:12075506)
- Loss of subcutaneous adipose tissue in limbs (HP:0003635): Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. Evidence: IEA. (OMIM:248370)
- Convex nasal ridge (HP:0000444): Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. Evidence: PCS. Frequency: 1/1. (PMID:14627682)
- 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:248370)
- Hypoplasia of teeth (HP:0000685): Developmental hypoplasia of teeth. Evidence: IEA. (OMIM:248370)
- Elbow flexion contracture (HP:0002987): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: PCS. Frequency: 1/1. (PMID:14627682)
- Hyperinsulinemia (HP:0000842): An increased concentration of insulin in the blood. Evidence: IEA. (OMIM:248370)
- Acroosteolysis of distal phalanges (feet) (HP:0001870). Evidence: PCS. Frequency: 9/9. (PMID:12075506)
- Osteolytic defects of the distal phalanges of the hand (HP:0009839). Evidence: IEA. (OMIM:248370)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. (PMID:12075506)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 9/9. (PMID:12075506)
- Mottled pigmentation (HP:0001070): Patchy and irregular skin pigmentation. Evidence: IEA. (OMIM:248370)
- Narrow nasal ridge (HP:0000418): Decreased width of the nasal ridge. Evidence: IEA. (OMIM:248370)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: PCS. Frequency: 1/1. (PMID:14627682)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: PCS. Frequency: 1/1. (PMID:14627682)
- Lipodystrophy (HP:0009125): Degenerative changes of the fat tissue. Evidence: PCS. Frequency: 11/11. (PMID:14627682;PMID:12075506)
- 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: IEA. (OMIM:248370)
- Short clavicles (HP:0000894): Reduced length of the clavicles. Evidence: PCS. Frequency: 9/10. (PMID:14627682;PMID:12075506)
- Poikiloderma (HP:0001029): Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. Evidence: PCS. Frequency: 1/1. (PMID:14627682)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: IEA. (OMIM:248370)
- 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: 9/9. (PMID:12075506)
- 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: PCS. (PMID:12075506)
- Progressive clavicular acroosteolysis (HP:0000905): Progressive bone resorption in the distal part of the clavicle. Evidence: IEA. (OMIM:248370)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: TAS. (OMIM:248370)
- 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: PCS. Frequency: 1/1. (PMID:14627682)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. Frequency: 9/9. Onset: Childhood onset (HP:0011463). (PMID:12075506)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 10/10. (PMID:14627682;PMID:12075506)
- Increased adipose tissue around the neck (HP:0000468): An increased amount of subcutaneous fat tissue around the neck. Evidence: PCS. (PMID:17848409)
These phenotypes are associated with the disease mandibuloacral dysplasia with type A lipodystrophy (OMIM:248370).