This severe form presents as persistent sternal recession, feeding difficulties, and failure to thrive, progressing to apnoeic attacks, cor pulmonale and eventually death.
[ncbi.nlm.nih.gov]
There is no significant airway obstruction, no feeding difficulties, or other symptoms associated with laryngomalacia.
[childrenshospital.vanderbilt.org]
Other symptoms that can be associated with laryngomalacia include: Feeding difficulties Poor weight gain (failure to thrive) Regurgitation of food (vomiting or spitting up
[childrenshospital.vanderbilt.org]
GER becomes problematic gastroesophageal reflux disease (GERD) when complications are present, including feeding difficulties and poor weight gain.
[pedsinreview.aappublications.org]
Children can have feeding difficulties like difficulty advancing to age appropriate foods, coughing when they are trying to swallow solids or liquids.
[childrensnational.org]
In addition, young children with eosinophilic esophagitis may present with feeding difficulties.
[dictionary.cambridge.org]
Febrile episodes disappear after the first year of life, whereas feeding difficulties persist.
[orpha.net]
Crisponi/CISS1 syndrome (MIM#272430) is a rare autosomal recessive disease characterized by major feeding difficulties, camptodactyly, and anhidrosis in early childhood; and
[portal.findresearcher.sdu.dk]
Associated physical and constitutional findings include characteristic facial anomalies, camptodactyly, intermittent hyperthermia, and feeding difficulties.
[unboundmedicine.com]
We report the cases of a father and daughter diagnosed with CPLSS who presented with respiratory and feeding difficulties at birth undergoing surgical correction.
[ncbi.nlm.nih.gov]
Feeding difficulties occur more with cleft palate abnormalities. The infant may be unable to suck properly because the roof of the mouth is not fully formed.
[hopkinsmedicine.org]
Frequent early symptoms include feeding difficulties, nasal regurgitation, malnutrition, failure to thrive and hearing loss, while later in life, speech and voice problems
[doi.org]
Symptoms include irritability, unexplained fever, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development.
[centogene.com]
Symptoms include irritability, unexplained fever, limb stiffness (hypertonia), seizures, feeding difficulties, vomiting, and slowing of mental and motor development.
[clinicaltrials.gov]
Initial signs and symptoms typically include irritability, muscle weakness, feeding difficulties, episodes of fever without any sign of infection, stiff posture, and delayed
[ghr.nlm.nih.gov]
Typical PWS features in these 12 infants included hypotonia (100%), feeding difficulties (75%), cryptorchidism (83% males) and reduced FM (66%).
[ncbi.nlm.nih.gov]
RESULTS: Fourteen boys and six girls presented with hypotonia, poor responsiveness, feeding difficulty, and infrequent, weak crying.
[ncbi.nlm.nih.gov]
At birth and in infancy, hypotonia (floppiness), sleepiness and feeding difficulties are usually present.
[contact.org.uk]
Another frequent problem is feeding difficulties and the accompanied weight loss. In the worst cases patients die in childhood.
[voorsara.nl]
Feeding difficulties due to decreased suck and swallow can result in recurrent aspiration and poor nutrition.
[egl-eurofins.com]
difficulties while the late onset form presents with proximal muscle weakness, contractures and is able to achieve walking.
[clinicaltrials.gov]
People affected by this condition may have poor growth, severe feeding difficulties shortly after birth, developmental delay, learning disabilities, microcephaly (an unusually
[malacards.org]
Speech delay [ more ] 0000750 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Hypospadias
[rarediseases.info.nih.gov]
We believe that KS is a newly recognized cause of syndromic CHI and that this diagnostic should be envision in CHI patients presenting with feeding difficulties, mental retardation
[ashg.org]
Facial dysmorphisms (94%), feeding difficulties (100%) and hypotonia (100%) suggested the clinical diagnosis of KS.
[ncbi.nlm.nih.gov]
difficulties during infancy and poor postnatal growth and short stature.
[ncbi.nlm.nih.gov]
Muscle weakness may also cause difficulty speaking (dysarthria) and swallowing resulting in feeding difficulties.
[rarediseases.org]
The CM clinical spectrum ranges from severe forms presenting with congenital hypotonia, delayed motor milestones, feeding difficulties, muscle weakness, facial muscle involvement
[centrodinoferrari.com]
Many affected infants have feeding difficulties and about 25-40% of infants with congenital NM die, often from respiratory failure.
[genedx.com]
Thus, the earliest sign of autonomic dysfunction usually is feeding difficulties due to gastrointestinal dysmotility (oropharyngeal incoordination, abnormal esophageal peristalsis
[orpha.net]
GER becomes problematic gastroesophageal reflux disease (GERD) when complications are present, including feeding difficulties and poor weight gain.
[ncbi.nlm.nih.gov]
Here we report the first case of EE in an autistic patient with feeding difficulties caused by exacerbated EE symptoms.
[ncbi.nlm.nih.gov]
Unexplained feeding difficulties, vomiting, and solid-food dysphagia, especially in boys with atopy, supports the possibility of having EoE.
[cfp.ca]
difficulties, gastroesophageal reflux, short stature, and specific intellectual disabilities (such as visual spatial problems).
[ncbi.nlm.nih.gov]
The most common oro-facial findings were detected as high palate (87%), diastema (60%), failure to thrive (60%), feeding difficulties (60%), vomiting (47%), macroglossi (47%
[ncbi.nlm.nih.gov]
Feeding difficulties tend to resolve as the children get older.
[williamssyndrome.org.au]
Poor sucking ability and reduced swallowing are frequent, leading to feeding difficulties. Deep tendon reflexes are absent. Respiratory failure is common.
[orpha.net]
At birth, infants with SMARD1 are often noted to have a weak cry, inspiratory stridor, feeding difficulties, and congenital contractures, especially foot deformities.
[genedx.com]
Symptoms : Difficulty in feeding Difficulty in hearing Feeling distress during normal respiratory activity Non – classical infantile onset Second form of disease i.e. the
[foodnhealth.org]
Infants presenting with feeding difficulties may require specialized diets or gastric feedings in order to assure their development and to avoid aspiration pneumonia.
[symptoma.com]
The infantile form presents in the first six months of life (typically at between 4-8 weeks) with weakness, hypotonia, respiratory distress, feeding difficulties and heart
[patient.info]
Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe
[malacards.org]
In some cases, if affected infants and children experience swallowing and feeding difficulties and cannot feed appropriately by mouth, a tube may be surgically inserted into
[rarediseases.org]
In addition, in some cases, affected infants may experience swallowing (dysphagia) and feeding difficulties that may contribute to growth delays and failure to thrive.
[rarediseases.org]
feeding Breathing difficulty can rapidly become an emergency condition.
[medlineplus.gov]
They include severe weakness or 'floppiness', poor head control, weak cry and cough, and difficulty with swallowing and feeding.
[rch.org.au]
Poor sucking ability and reduced swallowing are frequent, leading to feeding difficulties. Deep tendon reflexes are absent. Respiratory failure is common.
[orpha.net]
A broad range of clinical findings was originally reported in those with confirmed SCADD, including severe dysmorphic facial features, feeding difficulties / failure to thrive
[ncbi.nlm.nih.gov]
Among the 114 with developmental delay, three subgroups were identified: 23 (20%) with failure to thrive, feeding difficulties, and hypotonia 25 (22%) with seizures 34 (30%
[ncbi.nlm.nih.gov]
Episodic metabolic acidosis 0004911 Ethylmalonic aciduria 0003219 Facial palsy Bell's palsy 0010628 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Feeding
[rarediseases.info.nih.gov]
difficulties in infancy 0008872 Flexion contracture Flexed joint that cannot be straightened 0001371 Kyphosis Hunched back Round back [ more ] 0002808 Neonatal hypotonia
[rarediseases.info.nih.gov]
Affected infants may also have difficulties with feeding due to muscle weakness.
[icdlist.com]
Difficulties with feeding often result in the need for a feeding tube inserted into the stomach.
[contact.org.uk]
Affected infants may also develop respiratory and feeding difficulties.
[rarediseases.org]
The common life-threatening complications of MDC1A include respiratory failure and feeding difficulties.
[spandidos-publications.com]
Feeding difficulties leading to failure to thrive may be managed by gastrostomy.
[rarediseases.info.nih.gov]
People with CMDs are often afflicted with a wide range of health complications, including cognitive impairment, respiratory complications, cardiac complications, feeding difficulties
[neurologyadvisor.com]
Affected infants may also develop respiratory and feeding difficulties.
[rarediseases.org]
We have now shown that these children have difficulties at all stages of the feeding process.
[adc.bmj.com]
Swallowing difficulty [ more ] 0002015 Dystonia 0001332 EMG: chronic denervation signs 0003444 Emotional lability Emotional instability 0000712 Feeding difficulties Feeding
[rarediseases.info.nih.gov]
No feeding difficulties or hypotonia were noticed. Her motion and mental development were normal at 8 months after birth.
[spandidos-publications.com]
Lack of muscle strength causes difficulty with feeding. Muscle weakness can also result in breathing problems that can lead to frequent infections, such as pneumonia.
[encyclopedia.pub]
Some people with ADNP syndrome have weak muscle tone (hypotonia) and feeding difficulties in infancy.
[medlineplus.gov]
Orofacial clefting, heart defects, short stature, feeding difficulties and hypotonia can be observed.
[findzebra.com]
Two patients had chronic lung disease, 3 had gastrointestinal reflux and feeding difficulties, and 1 had intestinal malrotation.
[findzebra.com]
Symptoms of this disorder include: Coma Feeding difficulties Lethargy Seizures Urine that smells like maple syrup Vomiting When the condition is diagnosed, and during episodes
[nlm.nih.gov]
The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and
[dovepress.com]
The index patient and her brother both had poor sucking power and feeding difficulty at birth and episodes of oculogyric crises, truncal hypotonia, limb hypertonia, sleep
[ncbi.nlm.nih.gov]
Abnormal sleep, feeding difficulties, and esophageal reflux were typical.
[ncbi.nlm.nih.gov]
difficulties Hypersalivation Tongue thrusting Gastrointestinal symptoms (dysmotility and absorption, gastroesophageal reflux, constipation and diarrhea) Nasal congestion
[pndassoc.org]
Feeding difficulties have been reported while anal atresia is present in about half of patients.
[disorders.eyes.arizona.edu]
In the first year of life, he presented feeding difficulties and failure to thrive. Clinical examination at 7 years old revealed: a height of 107 cm [ Figure 1 ).
[content.sciendo.com]
A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs.
[icd10data.com]
The third patient was diagnosed at the age of 5 d when she presented with feeding difficulties, hypotonia, and respiratory insufficiency.
[ncbi.nlm.nih.gov]
Parents may claim feeding difficulties, note their children to become increasingly somnolent or lethargic.
[symptoma.com]
difficulties in infancy 0008872 Hyperglycinemia Elevated blood glycine levels 0002154 Hyperglycinuria High urine glycine levels 0003108 Increased level of hippuric acid in
[rarediseases.info.nih.gov]
It can lead to severe feeding difficulties and low blood sugar (hypoglycemia).
[ghr.nlm.nih.gov]
difficulties Delayed speech and language development And another 13 symptoms.
[mendelian.co]
Retardation Syndrome; Aamr Intellectual disability Global developmental delay Generalized hypotonia Hearing impairment Nystagmus Strabismus Muscular hypotonia Spasticity Feeding
[mendelian.co]
Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and
[malacards.org]
[…] with feeding and swallowing.
[adc.bmj.com]
[…] again a result of bony encroachment, but the manifestations are usually relatively mild and thus less obvious.9 21 22 Children may have some paucity of facial expression or difficulties
[adc.bmj.com]
difficulties Abnormality of the eye Cataract (disease) Congenital ocular coloboma Large eyes Microphthalmia Reduced visual acuity Retinal degeneration Visual impairment Abnormality
[ncbi.nlm.nih.gov]
Feeding difficulties MedGen UID: 65429 •Concept ID: C0232466 • Finding Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow
[203.71.232.25]
Abnormality of head or neck Microcephaly Progressive microcephaly Abnormality of metabolism/homeostasis Elevated serum creatine phosphokinase Abnormality of the digestive system Feeding
[ncbi.nlm.nih.gov]
