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 [ortho.studio]

We present… CONTINUE READING [semanticscholar.org]

We present the tenth case of this syndrome. The G4P2012>2022 Caucasian 35-year-old woman had one ectopic pregnancy and two surviving daughters; one said to be affected by autism and seizures, the other by ADHD and Asperger syndrome. [ashg.org]

• Low-Set Posteriorly Rotated Ears

  ] 0001511 Low-set, posteriorly rotated ears 0000368 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 30%-79% of people have these symptoms Abnormally ossified [rarediseases.info.nih.gov]

• Depressed Nasal Bridge

  Related phenotypes are hypertelorism and depressed nasal bridge [malacards.org]

  Symptoms - Crane-Heise syndrome * Delayed fetal development * Large head * Widely spaced eyes * Depressed nasal bridge * Small face Causes - Crane-Heise syndrome Cleft lip or palate most commonly occurs as an isolated birth defect. [checkorphan.org]

  The first-born sib showed disproportionately large head with small face, depressed nasal bridge with anteverted nares, micrognathia, apparent ocular hypertelorism, low-set and posteriorly rotated ears with hypoplastic helix, short neck, partial soft tissue [omim.org]

  nasal bridge, wide and upturned nares, lateral cleft lip, cleft palate, or even absence of hard and soft palate, severe micrognathia/retrognathia, short neck) and the skeleton (absent cervical vertebrae, absent or abnormal clavicles, hypoplastic scapulae [accessanesthesiology.mhmedical.com]

• Low Nasal Root

  […] skull ossification Decreased bone formation of skull 0004331 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Hypertelorism [rarediseases.info.nih.gov]

• 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]

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]

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]

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

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

Prognosis Prognosis is poor; the syndrome is almost always lethal soon after birth. Last updated: 1/8/2010 This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. [rarediseases.info.nih.gov]

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. [orpha.net]

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]

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]

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

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]