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 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]
There were unusual facial features, digital anomalies, cleft palate, a malformed tongue that prevented swallowing, absentclavicles 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 absentclavicles 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, absentclavicles and genital hypoplasia.[journals.lww.com]
stiffness Stiff jointStiff 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]
, posteriorlyrotatedears 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]
Autopsy revealed many features seen in Crane-Heise syndrome: markedly undermineralized calvarium, cleft lip, cleft palate, hypertelorism, soft tissue syndactyly of one hand, low-setears, 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-setears that are turned to the back short neck partially fused fingers[encyclopedia.com]
Symptoms - Crane-Heise syndrome * Delayed fetal development * Large head * Widely spaced eyes * Depressed nasal bridge * Smallface 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 smallface, 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]
This complex polymalformative syndrome with severe intrauterine growth retardation may involve the head and neck (macrocephaly with disproportionate smallface, deficient mineralization of the calvaria [or even absence of frontal, parietal, and occipital[accessanesthesiology.mhmedical.com]
Some of these include: large head with a relatively smallface 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]
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, shortneck, partial soft tissue[omim.org]
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]
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 shortneck partially fused fingers[encyclopedia.com]
Some of these include: large head with a relatively small face depressed nose with nasal openings turned forward underdeveloped jaw a narrownose bridge with eyes close together low-set ears that are turned to the back short neck partially fused fingers[encyclopedia.com]
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]
Clinical description Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturnednares. 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]
PrognosisPrognosis 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]
PrognosisPrognosis 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]
Child Sexual Abuse Prevention: Evaluation of the Program “Sharing Mouth to Mouth: My Body, Nobody Can Touch It”.[calio.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]