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Items: 2

1.

Alopecia - contractures - dwarfism - intellectual disability syndrome

A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. [from ORDO]

MedGen UID:
167081
Concept ID:
C0795895
Disease or Syndrome
2.

Generalized hypoplasia of dental enamel

A generalized form of developmental hypoplasia of the dental enamel. [from HPO]

MedGen UID:
870619
Concept ID:
C4025070
Anatomical Abnormality; Finding

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