Symptoma

Crane-Heise Syndrome

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]

  • Absent Clavicle

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

    From Wikidata Jump to navigation Jump to search Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles CRANE-HEISE SYNDROME Cleft Lip/Palate, Agenesis [wikidata.org]

    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]

  • Joint Stiffness

    stiffness Stiff joint Stiff joints [ more ] 0001387 Short distal phalanx of finger Short outermost finger bone 0009882 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 5%-29% of people have these symptoms Aplasia/Hypoplasia of the corpus callosum [rarediseases.info.nih.gov]

    stiffness, high-pitched voice syndrome Skull congenital deformities Smith Fineman Myers syndrome Sonoda syndrome Speech delay Spherophakia Steinfeld syndrome Stenosis of precerebral artery Summitt syndrome TARP syndrome Temtamy syndrome Tongue absent [icdlist.com]

  • Low-Set Posteriorly Rotated Ears

    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 vertebrae [rarediseases.info.nih.gov]

  • Low Set Ears

    Autopsy revealed many features seen in Crane-Heise syndrome: markedly undermineralized calvarium, cleft lip, cleft palate, hypertelorism, soft tissue syndactyly of one hand, low-set ears, and left clubbed foot. [ashg.org]

    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]

  • Kinky Hair

    الصفحة 351 - Menkes's kinky hair syndrome: an inherited defect in copper absorption with wide-spread effects. ‏ [books.google.com]

  • 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]

    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]

    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 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 Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypoplastic scapulae [rarediseases.info.nih.gov]

  • Small Face

    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]

    This complex polymalformative syndrome with severe intrauterine growth retardation may involve the head and neck (macrocephaly with disproportionate small face, deficient mineralization of the calvaria [or even absence of frontal, parietal, and occipital [accessanesthesiology.mhmedical.com]

    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]

    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]

  • Short Neck

    neck) and the skeleton (absent cervical vertebrae, absent or abnormal clavicles, hypoplastic scapulae, 11 rib pairs, large and small joint contractures, club foot, hypoplastic distal middle phalanges, soft tissue syndactyly of fingers and toes). [accessanesthesiology.mhmedical.com]

    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]

    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]

  • Low Nasal Root

    nasal root [ more ] 0005280 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypoplastic scapulae Small shoulder blade 0000882 Intrauterine growth retardation Prenatal growth deficiency Prenatal growth retardation [ more ] 0001511 Low-set [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]

  • Cryptorchidism

    Either hirsutism or absence of scalp and body hair, esophageal stenosis, redundant bowel loops, hypoplastic external genitalia, hypogonadism, and cryptorchidism have been described, but are not constant features. [accessanesthesiology.mhmedical.com]

    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 vertebrae Abnormal bone maturation of vertebra 0100569 Cryptorchidism [rarediseases.info.nih.gov]

  • Upturned Nares

    Clinical description Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. [orpha.net]

    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, 11 rib pairs, large and small [accessanesthesiology.mhmedical.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]

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

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

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]