Based on the features of all cases (n = 20) we defined major criteria as those present in 85-100% of all MADB patients and minor criteria as those present in 70-84% of patients. [pesquisa.bvsalud.org]

• Premature Loss of Teeth

  0009002 Mottled pigmentation Mottled skin coloring 0001070 Narrow nasal ridge Decreased width of nasal ridge Pinched nose Thin nasal ridge [ more ] 0000418 Premature loss of teeth Early tooth loss Loss of teeth Premature teeth loss Premature tooth loss [rarediseases.info.nih.gov]

• Tooth Loss

  […] in trunk 0009002 Mottled pigmentation Mottled skin coloring 0001070 Narrow nasal ridge Decreased width of nasal ridge Pinched nose Thin nasal ridge [ more ] 0000418 Premature loss of teeth Early tooth loss Loss of teeth Premature teeth loss Premature [rarediseases.info.nih.gov]

• Joint Deformity

  Other bone problems include loss of bone from the tips of the fingers (acroosteolysis), which causes bulbous finger tips; delayed closure of certain skull bones; and joint deformities (contractures).People with mandibuloacral dysplasia can have mottled [rarediseases.info.nih.gov]

• Sloping Shoulders

  Most affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), leading to the characteristic features of a small chin and sloped shoulders. [rarediseases.info.nih.gov]

• Sparse Hair

  Major criteria were found to be short stature, clavicular hypoplasia, delayed closure of cranial sutures, high palate, mandibular hypoplasia, dental crowding, acro-osteolysis of the distal phalanges, hypoplastic nails, brittle and/or sparse hair, mottled [pesquisa.bvsalud.org]

  Premature loss of teeth Early tooth loss Loss of teeth Premature teeth loss Premature tooth loss [ more ] 0006480 Progressive clavicular acroosteolysis 0000905 Short clavicles Short collarbone 0000894 Short phalanx of finger Short finger bones 0009803 Sparse [rarediseases.info.nih.gov]

• Thin Skin

  Some people with this condition have features of premature aging (a condition called progeria), such as thin skin, loss of teeth, loss of hair, and a beaked nose. [rarediseases.info.nih.gov]

• Alopecia

  […] outermost finger bone 0009882 Thin skin 0000963 30%-79% of people have these symptoms Abnormal fingertip morphology Abnormality of the fingertips 0001211 Abnormality of the dentition Abnormal dentition Abnormal teeth Dental abnormality [ more ] 0000164 Alopecia [rarediseases.info.nih.gov]

• Beaked Nose

  Some people with this condition have features of premature aging (a condition called progeria), such as thin skin, loss of teeth, loss of hair, and a beaked nose. [rarediseases.info.nih.gov]

• Bird-like Facies

  facies Bird-like facial appearance 0000320 Brittle hair 0002299 Decreased adipose tissue around neck Loss of fat around neck 0005995 Delayed cranial suture closure 0000270 Dental crowding Crowded teeth Dental overcrowding Overcrowding of teeth [ more [rarediseases.info.nih.gov]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]