Feeding difficulties, and Talipes equinovarus

Diseases related with Feeding difficulties and Talipes equinovarus

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

Top matches:

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

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

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

Other less relevant matches:

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

Medium 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

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

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

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

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

FREEMAN-SHELDON SYNDROME Is also known as craniocarpotarsal dystrophy|craniocarpotarsal dysplasia|distal arthrogryposis type 2a|whistling face syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about FREEMAN-SHELDON SYNDROME

Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Motor delay Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Talipes Abnormality of the foot Muscle weakness Global developmental delay Skeletal muscle atrophy Arthrogryposis multiplex congenita Decreased fetal movement Failure to thrive Short stature High palate Fever Peripheral neuropathy Severe muscular hypotonia Scoliosis Hyperhidrosis Ptosis Areflexia Hip dysplasia

Rare Symptoms - Less than 30% cases

Pes planus Sensory neuropathy Spinal rigidity Peripheral axonal neuropathy Cognitive impairment Dysphagia Delayed speech and language development Distal muscle weakness Muscular hypotonia Limb muscle weakness Poor head control Polyhydramnios Myopathy Wide nasal bridge Muscular dystrophy Dysarthria Limitation of joint mobility Camptodactyly of finger Muscle cramps Constipation Hip dislocation Feeding difficulties in infancy Camptodactyly Lethargy Ataxia Respiratory distress Low-set ears Long philtrum Abnormal facial shape Neonatal hypotonia Malignant hyperthermia Pain Intrauterine growth retardation Myopathic facies Distal arthrogryposis Recurrent lower respiratory tract infections Hypoventilation Tachypnea Weak cry Axonal degeneration Spinal muscular atrophy Decreased nerve conduction velocity Extrapyramidal dyskinesia Progressive muscle weakness Epiphyseal stippling Nystagmus Cataract Hepatomegaly Posteriorly rotated ears High forehead Jaundice Flat face Polymicrogyria Flat occiput Bilateral talipes equinovarus Cardiorespiratory arrest Premature birth Generalized neonatal hypotonia Hyporeflexia Respiratory failure Paralysis Small for gestational age Degeneration of anterior horn cells Intractable diarrhea Reduced dihydropyrimidine dehydrogenase activity Lower limb muscle weakness Distal amyotrophy Urinary incontinence EMG: neuropathic changes Open mouth Diaphragmatic eventration Proximal muscle weakness Oligohydramnios Depressed nasal ridge Nasal speech Ulnar deviation of finger Dimple chin Prenatal movement abnormality Absent palmar crease Cleft palate Fatigue Cardiomyopathy Kyphoscoliosis Hypertrophic cardiomyopathy Neurological speech impairment Facial palsy Generalized muscle weakness Congenital hip dislocation Limb-girdle muscular dystrophy Ophthalmoparesis Centrally nucleated skeletal muscle fibers Nemaline bodies Type 1 muscle fiber predominance Skeletal myopathy Generalized limb muscle atrophy Stooped posture Underdeveloped nasal alae Joint stiffness Diaphragmatic paralysis Short chin Inspiratory stridor Diaphragmatic weakness Nocturnal hypoventilation Peripheral axonal degeneration Ventilator dependence with inability to wean Denervation of the diaphragm Apnea Scarring Tachycardia Reduced consciousness/confusion Bradycardia Hand clenching Deeply set eye Corneal scarring Alacrima Limited hip extension Blotching pigmentation of the skin Hearing impairment Hypertelorism Strabismus Cryptorchidism Downslanted palpebral fissures Abnormality of the dentition Hernia Narrow mouth Morphological abnormality of the pyramidal tract Impaired vibratory sensation Excessive daytime somnolence Congestive heart failure Progressive encephalopathy Generalized dystonia Focal dystonia Excessive salivation Night sweats Parkinsonism with favorable response to dopaminergic medication Oculogyric crisis Decreased CSF homovanillic acid Gait disturbance Arrhythmia Limb dystonia Elevated serum creatine phosphokinase Hyperlordosis Narrow chest Joint hyperflexibility Myocardial infarction EMG abnormality Respiratory insufficiency due to muscle weakness Cachexia Congenital muscular dystrophy Generalized amyotrophy Central hypotonia Lower limb hyperreflexia Limb-girdle muscle weakness Gait ataxia Tremor Hypertonia Dystonia Intellectual disability, mild Cerebral atrophy Encephalopathy Babinski sign Pes cavus Myoclonus Rigidity Hypokinesia Muscular hypotonia of the trunk Irritability Parkinsonism Bradykinesia Abnormality of extrapyramidal motor function Drooling Postural tremor Mask-like facies Brisk reflexes Opisthotonus Neck muscle weakness Axial muscle weakness Infantile spasms Acidosis Sensory axonal neuropathy Long nose Narrow nasal bridge Delayed ability to walk Impaired proprioception Sensory ataxia Impaired tactile sensation Intellectual disability Diarrhea Abnormal pyramidal sign Joint contracture of the hand Abnormality of the cerebral white matter Anal atresia Cirrhosis Short distal phalanx of finger Dyskinesia Metabolic acidosis Brain atrophy Cholestasis Short phalanx of finger Plagiocephaly Sandal gap Broad-based gait Micrognathia Abnormality of the musculature Macrocephaly Syndactyly Mandibular prognathia Facial asymmetry Cutaneous syndactyly Deep philtrum Hammertoe Metatarsus adductus Mild short stature Short finger Trismus Inability to walk Symphalangism affecting the phalanges of the hand Cutaneous syndactyly of toes Calcaneovalgus deformity Tall chin Abnormality of the skeletal system Difficulty walking Thin upper lip vermilion Arachnodactyly Dysmetria Unsteady gait Minicore myopathy


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Postaxial hand polydactyly, related diseases and genetic alterations