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]

Seftel et al., (1996) also reported a case with features present at birth. This male had hypospadias and died at 8 days after birth from apnoea. The skin was described as thin, transparent, and parchment-like with easily visible veins. [fdna.health]

• 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]

  Individuals may also have a mottled skin pigmentation or color, thin and sparse hair, loss of eyebrows and other issues affecting the skin. A short stature is also a common feature. [fdna.health]

• 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]

  The aged appearance is caused by skin atrophy, alopecia, premature loss of teeth and a thin face and beaked nose. Cogulu et al., (2003) reported a case with absent breasts. [fdna.health]

• 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]

• Hyperpigmentation

  0001596 Calcinosis Calcium buildup in soft tissues of body 0003761 Convex nasal ridge Beaked nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Generalized lipodystrophy 0009064 Hyperlipidemia Elevated lipids in blood 0003077 Hyperpigmentation [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]

  The aged appearance is caused by skin atrophy, alopecia, premature loss of teeth and a thin face and beaked nose. Cogulu et al., (2003) reported a case with absent breasts. [fdna.health]

• 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]