Pfeiffer-palm-teller syndrome

Preferred Label : Pfeiffer-palm-teller syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, and high-pitched voice; Ppt syndrome;

Description : Pfeiffer et al. (1977) reported brother and sister with this combination. The brother also had congenital aortic stenosis. The ears were cup-shaped. The palpebral fissures were narrow, with epicanthal folds. *FIELD* RF 1. Pfeiffer, R. A.; Palm, D.; Teller, W.: A syndrome of short stature, amimic facies, enamel hypoplasia, slowly progressive stiffness of the joints, and high-pitched voice in two siblings. J. Pediat. 91: 955-957, 1977. *FIELD* CS;

Inheritance : Autosomal recessive;

Prefixed ID : 261560;

Details

Origin ID

261560;

UMLS CUI

C1849929;

Currated CISMeF NLP mapping
- Pfeiffer Palm Teller syndrome [MeSH concept]
- Pfeiffer-Palm-Teller syndrome [ORDO Disease]
- Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) [SNOMED CT concept]
- pfeiffer palm teller syndrome [MeSH Supplementary Concept]
HPO term(s)
- Aortic valve stenosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Cupped ear [HPO term]
- Enamel hypoplasia [HPO term]
- Epicanthus [HPO term]
- High pitched voice [HPO term]
- Joint stiffness [HPO term]
- Narrow palpebral fissure [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Pfeiffer-Palm-Teller syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pfeiffer Palm Teller syndrome [MeSH concept]
- Pfeiffer-Palm-Teller syndrome [ORDO Disease]
- Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) [SNOMED CT concept]
- pfeiffer palm teller syndrome [MeSH Supplementary Concept]

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