Their bodies can be formed differently with coarse facial features, recessed chin, multi-colored eyes, low-set ears, widely spaced and inverted nipples, and short limbs.
[fcdgc.rarediseasesnetwork.org]
The important thing to remember is that if a child presents with symptoms such as developmental delay, organ failure and failure to thrive, then to suspect CDG.
[cdg-uk.org]
During the first year of life, the patient had central hypotonia, gross motor delay, and failure to thrive.
[bmcmedgenet.biomedcentral.com]
Kyphosis, widely spaced (but not inverted) nipples, and pectus excavatum were also noted.
[jmg.bmj.com]
Infants may also have hepatic disease, nephrotic syndrome and renal cysts, pericardial effusion and hypertrophic cardiomyopathy, failure to thrive, and multi-organ failure
[atm.amegroups.com]
Article CAS PubMed Google Scholar Zentilin BM, de Lonlay P, Seta N, Besnard M, Pelatan C, Ogier H (2003) Failure to thrive and intestinal diseases in congenital disorders
[link.springer.com]
Kyphosis, widely spaced (but not inverted) nipples, and pectus excavatum were also noted.
[jmg.bmj.com]
MPI-CDG – Symptoms may include very low blood sugar, scarring of the liver and failure to thrive. Formerly known as CDG-Ib.
[chop.edu]
Infants may also have hepatic disease, nephrotic syndrome and renal cysts, pericardial effusion and hypertrophic cardiomyopathy, failure to thrive, and multi-organ failure
[atm.amegroups.com]
[…] and wide spaced nipples; clenched hands with 5th digits overlying 4th and 2nd overlying 3rd, bilaterally; bilateral vertical talus; 2nd toes longer and overlying 3rd toes
[gimjournal.org]
Failure to thrive Weight faltering, Postnatal failure to thrive, Undergrowth, Poor weight gain [more] Failure to thrive (FTT) refers to a child whose physical growth is substantially
[rarediseases.oscar.ncsu.edu]
[…] to thrive, normal IQ, short stature, scoliosis, camptodactyly with ulnar deviation—‘windmill hands’—talipes equinovarus or clubfoot Segen's Medical Dictionary. © 2012 Farlex
[medical-dictionary.thefreedictionary.com]
Kyphosis, widely spaced (but not inverted) nipples, and pectus excavatum were also noted.
[jmg.bmj.com]
MPI-CDG – Symptoms may include very low blood sugar, scarring of the liver and failure to thrive. Formerly known as CDG-Ib.
[chop.edu]
Note the truncular obesity (C, E, F, H) and the widely spaced, inverted nipples (B, F, H).
[journals.plos.org]
Chest - broad chest, pectus excavatum, inverted, hypoplastic, widely-spaced nipples. Joints - cubitus valgus, congenital hip dislocation.
[patient.info]
[…] to thrive in infancy Faltering weight in infancy Weight faltering in infancy [ more ] 0001531 Genu valgum Knock knees 0002857 Hashimoto thyroiditis 0000872 Hearing impairment
[rarediseases.info.nih.gov]
Other frequent anomalies include a webbed neck and a broad chest with widely spaced and inverted nipples.
[merckmanuals.com]
[…] and widely-spaced nipples, broad hands, tapering fingers, single palmar crease on the left palm, and broad feet with short toes and small nails (Figure 1).
[molecularcytogenetics.biomedcentral.com]
They showed a phenotype consistent with the “ring syndrome” with failure to thrive, minor dysmporphic features and no major anomalies.
[tp.amegroups.com]
[…] and narrowing of palpebral fissures, broad nasal bridge, stubby nose, smooth philtrum with thin upper lip and everted lower lip, microstomia, narrow palate, short neck, inverted
[molecularcytogenetics.biomedcentral.com]
Kyphosis, widely spaced (but not inverted) nipples, and pectus excavatum were also noted.
[jmg.bmj.com]
MPI-CDG – Symptoms may include very low blood sugar, scarring of the liver and failure to thrive. Formerly known as CDG-Ib.
[chop.edu]
Infants may also have hepatic disease, nephrotic syndrome and renal cysts, pericardial effusion and hypertrophic cardiomyopathy, failure to thrive, and multi-organ failure
[atm.amegroups.com]
nipples Widely spaced ND ND ND ND Widely spaced ND ND ND ND ND ND ND ND ND Systemic manifestations Gastrointestinal symptoms Constipation Early feeding difficulties with
[bmcmedgenet.biomedcentral.com]
All cases had failure to thrive, microcephaly, ear dysplasia, laryngomalacia, hearing impairment, gastro-esophageal reflux disease, constipation, abnormal dentition, dermatitis
[ncbi.nlm.nih.gov]
[…] to thrive Faltering weight Weight faltering [ more ] 0001508 Intellectual disability, severe Early and severe mental retardation Mental retardation, severe Severe mental
[rarediseases.info.nih.gov]
Note the truncular obesity (C, E, F, H) and the widely spaced, inverted nipples (B, F, H).
[journals.plos.org]
Feeding difficulties can lead to a failure to gain weight and grow slower than normal (failure to thrive).
[fcdgc.rarediseasesnetwork.org]
[…] to thrive 9.
[slideshare.net]
Kyphosis, widely spaced (but not inverted) nipples, and pectus excavatum were also noted.
[jmg.bmj.com]
[…] to thrive Sensorineural hearing impairment And another 64 symptoms.
[mendelian.co]
Infants may also have hepatic disease, nephrotic syndrome and renal cysts, pericardial effusion and hypertrophic cardiomyopathy, failure to thrive, and multi-organ failure
[atm.amegroups.com]
Chest - broad chest, pectus excavatum, inverted, hypoplastic, widely-spaced nipples. Joints - cubitus valgus, congenital hip dislocation.
[patient.info]
[…] malocclusion Dental crowding Open mouth Thick vermilion border Depressed nasal bridge Delayed puberty Neonatal hypotonia Failure to thrive in infancy Autism Oxycephaly Upslanted
[mendelian.co]
[…] in neonatal period or stillborn (Tarda) Failure to thrive Bossing of the skull Bowing of the ribs Flaring of the ends of long bones Fractures and angular deformities Short
[flinders.edu.au]
Note truncal obesity, widely spaced, inverted nipples, as well as coarse face with high forehead, broad medial eyebrows, periorbital fullness, slight antimongoloid slant,
[link.springer.com]
Symptoms of 15q24 microdeletion syndrome include: Mild to moderate intellectual disability Low birth weight (1/3 of patients) Failure to thrive Difficulty feeding Growth difficulties
[patientworthy.com]
Feeding difficulties and failure to thrive are reported in about 20%. In later childhood, 30% show growth retardation and short stature and 17% obesity.
[rareguru.com]
[…] ears, bulbous nasal tip, downturned corners of the mouth, short broad neck - Widely spaced nipples - Short upper lip, short thumbs, transverse single palmar crease Words
[cyberleninka.org]
Clinical manifestations included failure to thrive, psychomotor delay, microcephaly, dysmorphic features, equinus feet, and umbilical hernia.
[ncbi.nlm.nih.gov]
failure to thrive. 4, 5 Although not all processes in the GH-IGF-1 cascade are glycosylated, in vitro and in vivo evidence has demonstrated that defective glycosylation leads
[journals.sagepub.com]
spaced hypoplastic or inverted nipples, low anterior and posterior hairlines, small chin, prominent ears because of large auricles, cubitus valgus, short fourth metacarpals
[clinicalgate.com]
One patient, a 16-year-old female from a consanguineous family, presented with severe congenital heart disease, failure to thrive, developmental delay, hearing loss and nephrotic
[cags.org.ae]
[…] to thrive, hypotonia, GI anomalies, intellectual disability, behavioral abnormalities, GU anomalies, dysmorphic, cataracts Yes Autosomal recessive Smith–Magenis syndrome
[thoracickey.com]
Note the truncular obesity (C, E, F, H) and the widely spaced, inverted nipples (B, F, H).
[journals.plos.org]
In infants, the disease may present as failure to thrive as a result of feeding problems; later, the disease may manifest as encephalopathy, hypotonia, delayed language and
[sema4genomics.com]
Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities
[orpha.net]
Note the truncular obesity (C, E, F, H) and the widely spaced, inverted nipples (B, F, H).
[journals.plos.org]
Failure to thrive Weight faltering, Postnatal failure to thrive, Undergrowth, Poor weight gain [more] Failure to thrive (FTT) refers to a child whose physical growth is substantially
[rarediseases.oscar.ncsu.edu]
Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC, see this term), vision impairment (optic atrophy, iris coloboma
[rarediseases.info.nih.gov]
Note the truncular obesity (C, E, F, H) and the widely spaced, inverted nipples (B, F, H).
[journals.plos.org]
It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.
[checkrare.com]
Infants may also have hepatic disease, nephrotic syndrome and renal cysts, pericardial effusion and hypertrophic cardiomyopathy, failure to thrive, and multi-organ failure
[atm.amegroups.com]
widely spaced nipples.
[ncbi.nlm.nih.gov]
Gastroenterology or nutrition consultation may be indicated in cases of failure to thrive.
[clinicaladvisor.com]
Other Weight should be followed closely with assessment for signs of failure to thrive.
[ncbi.nlm.nih.gov]
nipples Widely spaced ND ND ND ND Widely spaced ND ND ND ND ND ND ND ND ND Systemic manifestations Gastrointestinal symptoms Constipation Early feeding difficulties with
[ncbi.nlm.nih.gov]
"Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder".
[epo.wikitrans.net]
nipples Widely spaced ND Systemic manifestations Gastrointestinal symptoms Constipation ND Small genitalia/endocrine anomalies - Solitary renal cyst Cardiovascular system
[ncbi.nlm.nih.gov]
Other frequent anomalies include a webbed neck and a broad chest with widely spaced and inverted nipples.
[merckmanuals.com]
[…] to thrive followed by compulsive eating disorder and obesity at about 2 yr Decreased muscle mass Small hands and feet Hypogonadism Almond-shaped eyes Hypopigmentation Angelman
[alpfmedical.info]
Contractures that develop with age Prader-Willi syndrome Type of abnormality: deletion of paternal 15 and other mechanisms Critical region: 15p12 Mental retardation Early failure
[alpfmedical.info]
Chest - broad chest, pectus excavatum, inverted, hypoplastic, widely-spaced nipples. Joints - cubitus valgus, congenital hip dislocation.
[patient.info]
Chandran syndrome Metaphyseal undermodeling, spondylar dysplasia, and overgrowth Macrocephaly-capillary malformation Warman Mulliken Hayward syndrome Cataract-microcephaly-failure
[checkrare.com]
[…] to thrive-kyphoscoliosis Auriculoosteodysplasia Aplasia cutis congenita of limbs recessive Epidermolysis bullosa simplex, Dowling-Meara type Waardenburg syndrome type 3 Antecubital
[checkrare.com]
Q83.2 Extra nipples (supernumerary nipples) Q83.3 Supernumerary nipple Q83.3 Inverted nipples Q83.8 Small nipple (hypoplastic) Q83.8 Widely spaced nipples Q83.8 Monilethrix
[cdc.gov]
[…] to thrive Weakness Gait abnormalities Bladder or bowel dysfunction Metastatic Peritoneal Neurocutaneous Melanocytosis.
[thedoctorsdoctor.com]
[…] crease Q82.8 or Q84.8 Vaginal or hymenal tags Q82.8 or Q84.8 Single transverse palmar crease Q82.80 Anal tag Q82.81 Skin tag Q82.81 Unusual dermatoglyphics Q82.84 Absent nipple
[cdc.gov]
Other frequent anomalies include a webbed neck and a broad chest with widely spaced and inverted nipples.
[merckmanuals.com]
Failure to thrive due to various endocrine abnormalities such as Hashimoto’s thyroiditis [ 5 ], adrenal gland dysfunction [ 6 ], primary gonadal failure, ovarian failure and
[casereports.in]
The authors here report a 13 year old girl having 46 XX karyotype and negative SRY gene with severe failure to thrive, spasticity, bulbar telangiectasia, clitoromegaly and
[casereports.in]
nipples Dysphagia Long palpebral fissure Obsessive-compulsive behavior Language impairment Widely spaced teeth Plagiocephaly Telangiectasia Hypoplasia of penis Renal hypoplasia
[mendelian.co]
Failure to thrive is common. Most patients have seizures of a tonic-clonic or atonic type which may be controlled with medication.
[disorders.eyes.arizona.edu]
[…] hyperostosis Chronic otitis media Stereotypy Eyelid coloboma Dysarthria Pancytopenia Cyanotic episode Generalized neonatal hypotonia Renal dysplasia Abnormality of finger Inverted
[mendelian.co]