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Fryns Microphthalmia Syndrome

Fryns microphthalmia syndrome is a very rare genetic condition in which a baby is born with absent eyes (anophthalmia) or very small eyes (microphthalmia) plus other...

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Anophthalmia-Plus Syndrome

Anophthalmia-Plus Syndrome is a very rare multiple congenital anomaly condition in which a baby is born with no eyes (anophthalmia) or very small eyes (severe microphthalmia)...

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Kumar–Levick Syndrome

Kumar–Levick syndrome is an old eponym used in the limb-malformation literature for a family in which several members had striking nail underdevelopment or absence (onychodystrophy/anonychia) together...

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Teebi-Kaurah Syndrome

Teebi-Kaurah syndrome is a very rare genetic condition present from birth. The two hallmark features are: (1) total absence of fingernails and toenails (the medical word...

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Anonychia Microcephaly Syndrome

Anonychia-microcephaly syndrome is a rare, likely genetic condition marked by the complete absence of nails and a small head size from birth, sometimes with normal intelligence...

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Aughton-Hufnagle Syndrome

Aughton–Hufnagle syndrome is a very rare condition present at birth. A baby has fine tissue bands that join the upper and lower eyelids (called ankyloblepharon filiforme...

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Amyotonia Congenita

Amyotonia congenita means “very low muscle tone present from birth.” Babies with this condition feel floppy when picked up, their joints move too easily, and their...

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Congenital Amniotic Ring Constrictions

Congenital amniotic ring constrictions—often called Amniotic Band Syndrome (ABS), amniotic band sequence, or constriction ring syndrome—is a birth condition that happens when thin, thread-like strands from...

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Streeter Dysplasia

Streeter dysplasia is a birth condition where thin, string-like bands inside the womb wrap around parts of a growing baby and squeeze them. These bands can...

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