Acrofacial dysostosis, Palagonia type

Definition

Orphanet

Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome (see this term), although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.

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Symptoms

Medical Term Other Names Description
Malar flattening Hypotrophic malar bone,
Malar hypoplasia,
Decreased size of malar bone,
Zygomatic flattening,
Underdevelopment of malar bone,
Depressed malar region
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Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Micrognathia Lower jaw hypoplasia,
Mandibular deficiency,
Retrusion of lower jaw,
Hypoplastic mandible condyle,
Small mandible,
Decreased projection of lower jaw,
Micrognathia of lower jaw,
Mandibular retrognathia,
Mandibular retrusion,
Decreased size of lower jaw,
Micromandible,
Underdevelopment of lower jaw,
Hypotrophic mandible,
Hypotrophic lower jaw,
Robin mandible,
Little mandible,
Underdevelopment of mandible,
Small jaw,
Decreased size of mandible,
Hypoplastic mandible,
Little lower jaw,
Decreased projection of mandible,
Mandibular micrognathia,
Lower jaw retrognathia
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Developmental hypoplasia of the mandible.
Pili torti Flattened and twisted hair Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.
High, narrow palate Narrow and high arched palate,
High arched palate,
Narrow, high-arched roof of mouth,
Narrow, highly arched palate,
Gothic palate,
High vaulted palate,
Narrow, highly arched roof of mouth
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The presence of a high and narrow palate.
Oligodontia Missing more than six teeth,
Number of teeth decreased by more than six,
Failure of development of more than six teeth,
Partial anodontia
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A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing.
Unilateral cleft lip One sided cleft upper lip,
Unilateral cleft upper lip,
Unilateral cheiloschisis
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A non-midline cleft of the upper lip on one side only.
Syndactyly Webbed fingers or toes Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "symphalangism".
Cutaneous syndactyly Cutaneous syndactyly of digits A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.
Cleft lip Cleft of the lip A gap in the lip or lips.

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