Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis

Preferred Label : Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Pfeiffer cardiocranial syndrome;

Description : Pfeiffer et al. (1987) described 2 sibs from healthy parents with this combination of manifestations. Curiously, no mention was made of the sex of the sibs. Stratton and Parsons (1989) described a sporadic case. In addition to craniosynostosis involving the sagittal suture, micrognathia with limited mouth opening, tracheobronchial anomalies, congenital heart defects, microphallus, cryptorchidism, and growth and mental retardation were features. Williamson-Kruse and Biesecker (1995) reported a fourth case. Although most of the features were similar to those described in the earlier patient, a heart defect was missing, suggesting that congenital heart defect is not an obligatory feature of the cardiocranial syndrome! The patient was male; one of the original sibs of Pfeiffer et al. (1987) was female. Autosomal recessive inheritance was supported by the finding of Pfeiffer cardiocranial syndrome in a brother and sister by Digilio et al. (1997). Craniosynostosis was present in only 1 of the sibs, suggesting intrafamilial variability. Further, the clinical spectrum of the disorder was expanded by inclusion of renal, joint, and palpebral abnormalities. *FIELD* RF 1. Digilio, M. C.; Marino, B.; Borzaga, U.; Giannotti, A.; Dallapiccola, B.: Intrafamilial variability of Pfeiffer-type cardiocranial syndrome. Am. J. Med. Genet. 73: 480-483, 1997. 2. Pfeiffer, R. A.; Singer, H.; Zschiesche, S.: Sagittal craniostenosis, congenital heart disease, mental deficiency and various dysmorphies in two sibs--a 'new' syndrome? Europ. J. Pediat. 146: 75-78, 1987. 3. Stratton, R. F.; Parsons, D. S.: Third case of Pfeiffer-type cardiocranial syndrome. Am. J. Med. Genet. 34: 587-588, 1989. 4. Williamson-Kruse, L.; Biesecker, L. G.: Pfeiffer type cardiocranial syndrome: a third case report. J. Med. Genet. 32: 901-903, 1995. *FIELD* CS;

Inheritance : Autosomal recessive;

Prefixed ID : 218450;

Details

Origin ID

218450;

UMLS CUI

C1857495;

CISMeF manual mappings
- Cardiocranial syndrome Pfeiffer type (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Cardiocranial syndrome [MeSH concept]
- Cardiocranial syndrome, Pfeiffer type [ORDO Disease]
- cardiocranial syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormal tracheobronchial morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cryptorchidism [HPO term]
- Growth delay [HPO term]
- Intellectual disability [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Microphallus [HPO term]
- Sagittal craniosynostosis [HPO term]
- Trismus [HPO term]
ORDO concept(s)
- Cardiocranial syndrome, Pfeiffer type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiocranial syndrome [MeSH concept]
- Cardiocranial syndrome Pfeiffer type (disorder) [SNOMED CT concept]
- Cardiocranial syndrome, Pfeiffer type [ORDO Disease]
- cardiocranial syndrome [MeSH Supplementary Concept]

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