We present two siblings from a second pedigree with features strikingly similar to those presented in the original publication, and distinct clinical differences, including distal phalangeal hypoplasia and mild cardiac and GI abnormalities that may represent [ncbi.nlm.nih.gov]

Crane-Heise syndrome is a rare lethal and autosomal recessive condition which has been first reported in 1981 in three siblings presenting intrauterine growth retardation, a poorly mineralised calvarium, characteristic facial features comprising cleft [pubcasefinder.dbcls.jp]

• Constitutional Symptom

  symptom (HP:0025142) Abnormal cellular phenotype (HP:0025354) Abnormality of the musculoskeletal system (HP:0033127) Abnormality of the thoracic cavity (HP:0045027) Voir plus Pré-analytique : 5 ml de sang total ou ADN extrait Température ambiante Options [staging.biomnis.blueshiftagency.co.uk]

• Narrow Nose

  Some of these include: large head with a relatively small face depressed nose with nasal openings turned forward underdeveloped jaw a narrow nose bridge with eyes close together low-set ears that are turned to the back short neck partially fused fingers [encyclopedia.com]

Unavailability of Appropriate Treatments To treat conditions which are rare, many a times all treatments are not available, especially in the under-developed countries. [databridgemarketresearch.com]

Treatment and management No treatment has been developed. Further research to better understand the cause and genetic basis of this disorder is necessary. [encyclopedia.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

Prognosis Prognosis is poor; the syndrome is almost always lethal soon after birth. Visit the Orphanet disease page for more resources. [rareguru.com]

Prognosis Prognosis is poor; the syndrome is almost always lethal soon after birth. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis Crane-Heise syndrome is a lethal disorder and infants are usually stillborn or survive only a few days after birth. Malformations of the brain and vertebrae are usually severe and cannot be corrected surgically. [encyclopedia.com]

Prognosis - Crane-Heise syndrome Not supplied. Treatment - Crane-Heise syndrome Not supplied. Resources - Crane-Heise syndrome Not supplied. [checkorphan.org]

Etiology It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait. Antenatal diagnosis Antenatal diagnosis is possible by ultrasonographic monitoring for cerebral and vertebral malformations. [rareguru.com]

There is strong evidence that this syndrome has autosomal recessive etiology, and our case does not contradict that hypothesis. You may contact the first author (during and after the meeting) at [ashg.org]

Epidemiology Nine cases have been reported in the literature so far. Clinical description Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. [rareguru.com]

Summary Epidemiology Nine cases have been reported in the literature so far. Clinical description Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. [orpha.net]

There were unusual facial features, digital anomalies, cleft palate, a malformed tongue that prevented swallowing, absent clavicles and genital hypoplasia. [ncbi.nlm.nih.gov]

The parents of the fetus are consanguineous There were unusual facial features, digital anomalies, cleft palate, a malformed tongue that prevented swallowing, absent clavicles and genital hypoplasia. [journals.lww.com]

Prevention - Crane-Heise syndrome Not supplied. Diagnosis - Crane-Heise syndrome Not supplied. Prognosis - Crane-Heise syndrome Not supplied. Treatment - Crane-Heise syndrome Not supplied. Resources - Crane-Heise syndrome Not supplied. [checkorphan.org]

A diagnosis of osteoarthritis is made based on a • Joint protection, which prevents strain and stress on physical exam and history of symptoms. [rothkochapel.org]

The painless, noninvasive test measures bone Treatment and management density and helps determine whether medication is needed to help maintain bone mass, prevent further bone There a number of options for preventing and treat- loss, and reduce fracture [woodsholemuseum.org]