A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.
[doi.org]
A new syndrome of congenital hypopatathyroidism, seizure, growth failure and dysmorphic features.
[ncbi.nlm.nih.gov]
We believe that this association of congenital hypoparathyroidism with severe growth failure and dysmorphism represents a new syndrome.
[doi.org]
The frame shift mutation of ERCC6 found in this patient is a novel one, which caused postnatal growth failure and early death.
[ncbi.nlm.nih.gov]
Cockayne Syndrome (CS) is a rare autosomal recessive disorder, which leads to neurodegeneration, growth failure and premature aging.
[ncbi.nlm.nih.gov]
failure, lip/palate cleft(s), and urogenital anomalies.
[nature.com]
Characterized by growth failure, craniofacial deformities, hydrocephalus, mental retardation, and skeletal defects.
[accessanesthesiology.mhmedical.com]
G, Demeocq F, Palcoux JB, Vanilieferinghen P (1983): A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth
[nature.com]
Pathophysiology The primary defect in leprechaunism is located in the insulin receptor, but a secondary associated defect probably is responsible for growth failure because
[accesspediatrics.mhmedical.com]
Although some patients survived for several years, most die of severe failure to thrive with recurrent infections in the first year of life.
[accessanesthesiology.mhmedical.com]
Both patients shared the same mutation and presented with intra-uterine growth restriction, failure to thrive, fasting hyperinsulinaemic hypoglycaemia and episodic post-prandial
[ncbi.nlm.nih.gov]
failure (panhypopituitarism) (see these terms).
[rarediseases.info.nih.gov]
[…] tyrosinemia type 1, biliary atresia, choledochal cyst, cystic fibrosis, Alagille syndrome, galactosemia and hereditary fructose intolerance or diseases that present with growth
[rarediseases.info.nih.gov]
Analysis of approximately 30 cases reveals prevalence of growth failure and delayed bone age, mild microcephaly, broad forehead with sparse frontal hair, telecanthus, blepharophimosis
[ncbi.nlm.nih.gov]
Dubowitz syndrome (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/short stature
[ncbi.nlm.nih.gov]
Dubowitz syndrome is a presumed autosomal recessive disorder characterized by multiple congenital abnormalities: microcephaly, learning and developmental delay, growth failure
[ncbi.nlm.nih.gov]
• The features of the syndrome of mulibrey nanism, an autosomal recessive disorder of unknown pathogenesis, include severe growth failure, yellow pigmentation of the retina
[jamanetwork.com]
It causes severe growth failure along with abnormalities of the heart, muscle, liver, brain and eye.
[definitions.net]
It is important that physicians look for this disorder in children with severe growth failure and hepatomegaly because of the potential seriousness of undetected pericardial
[jamanetwork.com]
Outlook (Prognosis) Infants who have severe growth failure may grow normally with treatment. Over time, some people with the condition will develop kidney failure.
[mountsinai.org]
They may improve polyuria, salt wasting and growth failure.
[clinicaladvisor.com]
Infants who have severe growth failure may grow normally with treatment. Over time, some people with the condition will develop kidney failure.
[medlineplus.gov]
CAMFAK is an acronym for cataract, microcephaly, failure to thrive, and kyphoscoliosis. Extremely rare, with probably fewer than 15 cases described. Autosomal recessive.
[accessanesthesiology.mhmedical.com]
MalaCards integrated aliases for Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome: Name: Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome
[malacards.org]
Diseases related to Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing: Human phenotypes
[malacards.org]
Presence of anaemia significantly correlated to severity of immunodeficiency and growth failure and to presence of neutropenia.
[ncbi.nlm.nih.gov]
The growth failure was progressive.
[ncbi.nlm.nih.gov]
This study suggests that Hirschsprung disease is associated especially with severe cartilage-hair hypoplasia: the patients with Hirschsprung disease had severe growth failure
[ncbi.nlm.nih.gov]
[…] retardation and postnatal growth failure.
[humpath.com]
[…] abnormality Failure to thrive Fetal growth restriction Short stature Small for gestational age IMPORTANT NOTE: NIH does not independently verify information submitted to
[ncbi.nlm.nih.gov]
[…] retardation and postnatal catch-up growth failure.
[emedicine.medscape.com]
This syndrome should be considered in the differential diagnosis of children with growth failure.
[mattioli1885journals.com]
[…] to thrive in the context of normal linear growth.
[symptoma.com]
Key words: Diencephalic syndrome Emaciation Growth failure Brain tumor El Texto completo está disponible en PDF Bibliografía [1.] A. Russell.
[analesdepediatria.org]
We describe the phenotype of a patient with severe growth failure where whole exome sequencing (WES) revealed compound heterozygosity for two mutations in the CTC1 gene.
[abstracts.eurospe.org]
Conclusion: Multiple characteristics (progeroid appearance, cerebral calcifications of the basal ganglia, osteopenia, bone anomalies, fractures, growth failure, anemia) are
[abstracts.eurospe.org]
micro cornea, joint contractures, and growth failure) [8], COCKAYNE syndrome (neurodegenerative disorder characterized by low birth weight, growth failure, brain demyelination
[juniperpublishers.com]
Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp KW, et al: Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.
[karger.com]
failure, and hypothalamic hypogonadism.
[iamg.in]
A 13-year-old boy with a 46,XY,r(7) karyotype presented with growth failure, microcephaly, achromic spots and multiple pigmented naevi.
[ncbi.nlm.nih.gov]
We report on a boy with ring chromosome 7 who had severe mental retardation, growth failure, microcephaly, cleft lip and palate, café-au-lait spots, nevus flammeus, and genital
[ncbi.nlm.nih.gov]
Search for a rare disease Disease definition Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth
[orpha.net]
Physical examination revealed severe growth failure and genu valgum. Venous blood gas analysis indicated metabolic acidosis.
[adc.bmj.com]
Cystinosis may present with symptoms of polyuria, thirst, failure to thrive, growth retardation, vomiting, periods of dehydration, constipation and developmental delay.
[jcdr.net]
Growth failure is also a common early finding.
[webeye.ophth.uiowa.edu]
Symptoms and Signs Among the symptoms of Valinemia are vomiting, hypotonia, growth retardation, failure to thrive, and poor feeding.
[dianamossop.com]
Valinemia Symptoms and Signs Among the symptoms of Valinemia are vomiting, hypotonia, growth retardation, failure to thrive, and poor feeding.
[naturalcurefor.com]
Diagnosis Among the symptoms of Valinemia are vomiting, hypotonia, growth retardation, failure to thrive, and poor feeding.
[healthinformationview.com]
Children born with GSD I typically exhibit growth failure, chronic hunger, fatigue, irritability, an enlarged liver, and a swollen abdomen.
[liverfoundation.org]
Untreated or inadequately treated patients exhibit muscle weakness and failure to thrive in infancy, whereas older children show poor growth and delayed puberty.
[clinicaladvisor.com]
Clinical features : Hepatomegaly, failure to thrive, cirrhosis, splenomegaly, jaundice, hypotonia, waddling gait, lumbar lordosis.
[patient.info]
However, in view of the growth failure, fair hair and skin, proteinuria, polyuria and active rickets, cystinosis was considered.
[ncbi.nlm.nih.gov]
This is a study of a case report of cystinosis revealed by a growth failure and chronic dehydration.
[ncbi.nlm.nih.gov]
This leads to a growth failure in the children affected by the disease and ultimately kidney failure. The deposition in the cornea leads to blindness.
[cystinosisindia.org]
Mental retardation, growth failure, complications of osteopetrosis and other features were all recorded in this syndrome.
[ncbi.nlm.nih.gov]
failure and, if left untreated, complicated by osteomalacia with pathologic fractures, hypokalemic muscle weakness and periodic paralysis, nephrocalcinosis leading to renal
[ncbi.nlm.nih.gov]
[…] alkalinization with sodium bicarbonate and sodium citrate suggest the plausible speculation that Tiny Tim had renal tubular acidosis (type I), a disorder that is characterized by growth
[ncbi.nlm.nih.gov]
failure, lip/palate cleft(s), and urogenital anomalies.
[cureus.com]
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies
[nature.com]
"A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies
[en.wikipedia.org]
[…] the enzymes that digest fats, proteins and carbohydrates, leading to long-standing diarrhea) Growth failure Bone marrow failure Neutropenia (most patients present with recurrent
[chop.edu]
failure, Growth retardation, Lack of growth, Physical retardation 577.9 Unspecified disease of pancreas References Boocock, G., et al, Mutations in SBDS are associated with
[genedx.com]
Shwachman syndrome A condition characterized by pancreatic atrophy, neutropenia, growth failure, metaphyseal defects, hepatitis, anemia, thrombocytopenia, myocardial lesions–myofiber
[medical-dictionary.thefreedictionary.com]
Clin-Dysmorphol. 2000 Jan; 9(1): 15-9 Kirel,-B; Kural,-N; Yakut,-A; Adapinar,-B Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus
[malattierare.regione.veneto.it]
Turk-J-Pediatr. 2000 Apr-Jun; 42(2): 171-6 Ounap,-K; Justus,-I; Lipping-Sitska,-M Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the
[malattierare.regione.veneto.it]
[…] abnormality Failure to thrive Growth delay IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information
[ncbi.nlm.nih.gov]
[…] developmental delay Motor delay Abnormality of the respiratory system Recurrent bronchitis Constitutional symptom Exercise intolerance Fatigue Ear malformation Macrotia Growth
[ncbi.nlm.nih.gov]
[…] to thrive Faltering weight Weight faltering [ more ] 0001508 Finger syndactyly 0006101 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor
[rarediseases.info.nih.gov]
[…] malformation 0001305 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Failure
[rarediseases.info.nih.gov]
Patient 1 was first evaluated at 17 months of age because of a history of intrauterine growth retardation, failure to thrive, developmental delay, and congenital heart defect
[ashg.org]
OMIM : 57 The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor
[malacards.org]
The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor development
[ncbi.nlm.nih.gov]
[…] retardation and postnatal growth failure.
[humpath.com]
It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.
[checkrare.com]
[…] to thrive Faltering weight Weight faltering [ more ] 0001508 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Hypospadias 0000047 Intellectual disability
[rarediseases.info.nih.gov]
Growth retardation and failure to thrive are also some of the common features of children with Freeman-Sheldon Syndrome.
[epainassist.com]
Dysphagia, failure to thrive, growth deficit, and life-threatening respiratory complications (caused by structural anomalies of the oropharynx and upper airways) are frequent
[wiki.romse.org]
But swallowing difficulties as well as vomiting can lead to failure to thrive during infancy and in some cases retarded growth can occur.
[syndrome.org]
Few cases of CDG-IIg have been described but all have presented in infancy with failure to thrive, generalized hypotonia, growth impairment with rhizomelic short stature,
[themedicalbiochemistrypage.org]
Some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and
[rareguru.com]
For instance, failure to thrive seen in many types of CDG is attributable to the hypoglycosylation and impaired formation of several glycoproteins within the insulin growth
[atm.amegroups.com]
Signs and symptoms that have been most commonly reported include intrauterine growth restriction; failure to to thrive; developmental delay; intellectual disability; distinctive
[rarediseases.info.nih.gov]
[…] restriction feeding difficulties failure to thrive some degree of developmental delay or intellectual disability slightly asymmetrical growth abnormal skin pigmentation structural
[rarediseases.info.nih.gov]
The disorder may be characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failure to thrive)
[rarediseases.org]
