Feeding difficulties, and Talipes

Diseases related with Feeding difficulties and Talipes

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Talipes that can help you solving undiagnosed cases.


Top matches:

Medium match AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA


Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.

AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA Is also known as tyrosine hydroxylase-deficient dopa-responsive dystonia|dyt5b|dopa-responsive dystonia, autosomal recessive|tyrosine hydroxylase deficiency|dystonia, dopa-responsive, autosomal recessive|parkinsonism, infantile, autosomal recessive|autosomal recessive seg

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Ptosis
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA

Medium match CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION


Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

Low match TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME


TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Is also known as distal arthrogryposis type 7|hecht-beals syndrome|mouth, inability to open completely, and short finger-flexor tendons|trismus-pseudocamptodactyly syndrome|hecht syndrome|dutch-kentucky syndrome

Related symptoms:

  • Short stature
  • Micrognathia
  • Abnormal facial shape
  • Ptosis
  • Feeding difficulties


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

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Other less relevant matches:

Low match INFANTILE NEUROAXONAL DYSTROPHY


Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.

INFANTILE NEUROAXONAL DYSTROPHY Is also known as inad|neuroaxonal dystrophy, atypical|seitelberger disease|neurodegeneration with brain iron accumulation, pla2g6-related|inad1|phospholipase a2-associated neurodegeneration|plan

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE NEUROAXONAL DYSTROPHY

Low match ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT


Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

Low match DIHYDROPYRIMIDINURIA


Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.

DIHYDROPYRIMIDINURIA Is also known as dihydropyrimidinase deficiency|dph deficiency|dihydropyrimidinuria|dpys deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINURIA

Low match PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 8 (CG8, equivalent to CGA) have mutations in the PEX26 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Cataract
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A

Low match SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1


Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Is also known as dhmn6|hmn6|neuronopathy, distal hereditary motor, type vi|spinal muscular atrophy, diaphragmatic|autosomal recessive distal spinal muscular atrophy type 1|autosomal recessive spinal muscular atrophy with respiratory distress|dsma1|distal-hmn type 6|diaphr

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1

Low match ARGININEMIA


Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.

ARGININEMIA Is also known as arg1 deficiency|arginase deficiency|hyperargininemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ARGININEMIA

Low match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6


Hereditary sensory and autonomic neuropathy type VI is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012).For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (OMIM ).

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6 Is also known as familial dysautonomia with contractures|hereditary sensory and autonomic neuropathy type vi|hsan6|hsan vi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6

Top 5 symptoms//phenotypes associated to Feeding difficulties and Talipes

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Talipes equinovarus Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Feeding difficulties and Talipes. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the foot Ataxia Respiratory insufficiency Flexion contracture Global developmental delay Lethargy Hip dysplasia Severe muscular hypotonia Limb muscle weakness High palate Dysarthria Muscular hypotonia Muscle weakness Peripheral neuropathy Hyperhidrosis Hypertonia Dysphagia Delayed speech and language development

Rare Symptoms - Less than 30% cases


Irritability Abnormal facial shape Dystonia Muscular hypotonia of the trunk Respiratory distress Gait ataxia Limitation of joint mobility Decreased fetal movement Intellectual disability Poor head control Cachexia Pain Short stature Brain atrophy Gait disturbance Camptodactyly Lower limb muscle weakness Arthrogryposis multiplex congenita Fever Unsteady gait Dysmetria Developmental regression Tachypnea Hyperactivity Distal arthrogryposis Spasticity Cerebral atrophy Skeletal muscle atrophy Nystagmus Bradykinesia Distal muscle weakness Encephalopathy Sensory neuropathy Reduced consciousness/confusion Low-set ears Areflexia Peripheral axonal neuropathy Hepatomegaly Ptosis Constipation Babinski sign Failure to thrive Plagiocephaly Urinary incontinence Intractable diarrhea Cholestasis Weak cry Short phalanx of finger Morphological abnormality of the pyramidal tract Distal amyotrophy Metabolic acidosis Spinal muscular atrophy Premature birth Decreased nerve conduction velocity Excessive daytime somnolence Axonal degeneration Infantile spasms Progressive muscle weakness Small for gestational age Respiratory failure Camptodactyly of finger Long philtrum Anal atresia Posteriorly rotated ears High forehead Jaundice Flat face Cirrhosis Polymicrogyria Short distal phalanx of finger Flat occiput Extrapyramidal dyskinesia Bilateral talipes equinovarus Epiphyseal stippling Cataract Cardiorespiratory arrest Generalized neonatal hypotonia Reduced dihydropyrimidine dehydrogenase activity Intrauterine growth retardation Hyporeflexia Paralysis Dyskinesia Behavioral abnormality Hypoventilation Hyperlysinuria Cerebral palsy Hyperammonemia Athetosis Hemiplegia/hemiparesis Spastic diplegia Loss of consciousness Alkalosis Breathing dysregulation Cerebral edema Loss of ability to walk Cystinuria Progressive spastic quadriplegia Oroticaciduria Aminoaciduria Respiratory alkalosis Diaminoaciduria Neonatal hypotonia Apnea Scarring Tachycardia Open mouth Bradycardia Short chin Hand clenching Corneal scarring Alacrima Limited hip extension Spastic paraparesis Paraparesis Recurrent lower respiratory tract infections Edema EMG: neuropathic changes Degeneration of anterior horn cells Diaphragmatic eventration Diaphragmatic paralysis Inspiratory stridor Diaphragmatic weakness Nocturnal hypoventilation Peripheral axonal degeneration Ventilator dependence with inability to wean Denervation of the diaphragm Microcephaly Hyperreflexia Intellectual disability, severe Muscle stiffness Vomiting Abnormal pyramidal sign EEG abnormality Postnatal growth retardation Neurological speech impairment Spastic paraplegia Nausea and vomiting Paraplegia Nausea Coma Tetraplegia Spastic tetraplegia Anorexia Abnormality of the cerebral white matter Scoliosis Feeding difficulties in infancy Neck muscle weakness Hyperlordosis Muscular dystrophy Narrow chest Joint hyperflexibility Myocardial infarction EMG abnormality Respiratory insufficiency due to muscle weakness Congenital muscular dystrophy Generalized amyotrophy Spinal rigidity Limb-girdle muscle weakness Arrhythmia Axial muscle weakness Micrognathia Macrocephaly Syndactyly Mandibular prognathia Hip dislocation Facial asymmetry Muscle cramps Cutaneous syndactyly Deep philtrum Hammertoe Elevated serum creatine phosphokinase Congestive heart failure Mild short stature Opisthotonus Tremor Intellectual disability, mild Pes cavus Myoclonus Rigidity Parkinsonism Abnormality of extrapyramidal motor function Drooling Postural tremor Mask-like facies Brisk reflexes Hypokinesia Myopathy Lower limb hyperreflexia Limb dystonia Central hypotonia Progressive encephalopathy Generalized dystonia Focal dystonia Excessive salivation Night sweats Parkinsonism with favorable response to dopaminergic medication Oculogyric crisis Decreased CSF homovanillic acid Metatarsus adductus Short finger Acidosis Broad-based gait Short attention span Talipes calcaneovalgus Aceruloplasminemia Cognitive impairment Wide nasal bridge Abnormality of the skeletal system Pes planus Difficulty walking Thin upper lip vermilion Arachnodactyly Inability to walk Joint contracture of the hand Lewy bodies Sandal gap Impaired vibratory sensation Sensory axonal neuropathy Myopathic facies Long nose Narrow nasal bridge Delayed ability to walk Impaired proprioception Sensory ataxia Impaired tactile sensation Diarrhea Impaired smooth pursuit Neurofibrillary tangles Abnormality of the musculature Falls Trismus Symphalangism affecting the phalanges of the hand Cutaneous syndactyly of toes Calcaneovalgus deformity Tall chin Strabismus Visual impairment Optic atrophy Cerebellar atrophy Mental deterioration Abnormality of eye movement Neurodegeneration Global brain atrophy Progressive cerebellar ataxia Gliosis Chorea Neuronal loss in central nervous system Intention tremor Tetraparesis Dysdiadochokinesis Impulsivity Emotional lability Toe walking Alzheimer disease Blotching pigmentation of the skin



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