Feeding difficulties, and Sensory impairment

Diseases related with Feeding difficulties and Sensory impairment

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

Top matches:

Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (OMIM ), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013).See also {300858} for a phenotypically similar disorder that shows X-linked inheritance.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR

Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 7

Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION 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

The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS ), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003).Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003).See also isolated LCHAD deficiency (OMIM ), which is caused by mutation in the HADHA gene.

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD Is also known as trifunctional protein deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.

STÜVE-WIEDEMANN SYNDROME Is also known as neonatal schwartz-jampel syndrome|stÜve-wiedemann dysplasia|sjs2|schwartz-jampel syndrome type 2

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about STÜVE-WIEDEMANN SYNDROME

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A Is also known as acroosteolysis, neurogenic|neuropathy, hereditary sensory radicular, autosomal recessive|acroosteolysis, giaccai type|neuropathy, progressive sensory, of children|neuropathy, hereditary sensory, type iia|hsan iia|hsn iia|morvan disease|neuropathy, congeni

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A

Hereditary sensory and autonomic neuropathy, type 3 (HSAN3) is an inherited disorder characterized by sensory dysfunction and severe impairment of the autonomic nervous system activity, resulting in multisystem dysfunction.

FAMILIAL DYSAUTONOMIA Is also known as dysautonomia, familial|dys|hereditary sensory and autonomic neuropathy type iii|hereditary sensory and autonomic neuropathy type 3|hsan3|hsan iii|fd|riley-day syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FAMILIAL DYSAUTONOMIA

Low match MONOSOMY 22Q13

Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

Top 5 symptoms//phenotypes associated to Feeding difficulties and Sensory impairment

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Hypohidrosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Areflexia Scoliosis Pain Hypotension Intellectual disability Hyperhidrosis Impaired pain sensation Delayed speech and language development Strabismus Gastroesophageal reflux High palate Feeding difficulties in infancy Recurrent respiratory infections Hyporeflexia Seizures Sensory neuropathy Abnormal autonomic nervous system physiology Decreased nerve conduction velocity Unsteady gait Decreased corneal reflex Apnea Muscle weakness Failure to thrive Orthostatic hypotension Ataxia

Rare Symptoms - Less than 30% cases

Dysarthria Alacrima Neuropathic arthropathy Episodic hyperhidrosis Nausea and vomiting Renal insufficiency Vomiting Distal muscle weakness Peripheral axonal neuropathy Difficulty walking Respiratory insufficiency Talipes equinovarus Wide nasal bridge Flexion contracture Short stature Delayed ability to walk Decreased taste sensation Anhidrosis Epiphora Episodic fever Paresthesia Recurrent fractures Osteoporosis Nystagmus Sacral dimple Gait disturbance Incoordination Sleep apnea Osteolysis Pointed chin Hearing impairment Hypermetropia Diarrhea Dysphagia Hyperkeratosis Epicanthus Peripheral demyelination Decreased number of peripheral myelinated nerve fibers Respiratory distress Motor delay Distal sensory impairment Dysmetria Constipation Gait ataxia Neonatal hypotonia Thin upper lip vermilion Abnormality of the foot Poor speech Upslanted palpebral fissure Congestive heart failure Broad-based gait Abnormal blistering of the skin Dental crowding Long eyelashes Abnormality of metabolism/homeostasis Chronic infection Renal dysplasia Vertigo Polyneuropathy Urinary incontinence Dental malocclusion Axonal degeneration Osteomyelitis Generalized osteoporosis Osteolytic defects of the phalanges of the hand Chronic diarrhea Foot dorsiflexor weakness Recurrent infections Clubbing Oral-pharyngeal dysphagia Full cheeks Self-mutilation Arthropathy Sleep disturbance Vesicoureteral reflux Flexion contracture of finger Lymphedema Palpebral edema Hair-pulling Asthma Limitation of joint mobility Cerebellar cortical atrophy Oligohydramnios Abnormality of the metaphysis Bowing of the long bones Elbow flexion contracture Bruxism Knee flexion contracture Arachnoid cyst Abnormality of vision Accelerated skeletal maturation Metaphyseal widening Hypoplastic toenails Trismus Large hands Abnormal cortical bone morphology Recurrent skin infections Lacrimation abnormality Thickened cortex of long bones Ectopic thyroid Paronychia Smooth tongue Absent patellar reflexes Decreased sensory nerve conduction velocity Agenesis of corpus callosum Thick eyebrow Hydronephrosis Corneal erosion Hypoxemia Recurrent corneal erosions Abnormal pupil morphology Abnormal renal physiology Decreased number of large peripheral myelinated nerve fibers Abnormality of the pleura Increased blood urea nitrogen Decerebrate rigidity Corneal ulceration Abnormality of the peritoneum Episodic hypertension Elevated serum creatinine Deeply set eye Recurrent infections due to aspiration Decreased sensitivity to hypoxemia Umbilical hernia Ptosis Macrocephaly Macrotia Malar flattening Immunodeficiency Obesity Hyperactivity Clinodactyly of the 5th finger Heterochromia iridis Acrocyanosis Painless fractures due to injury Abnormality of the kidney Acral ulceration Autoamputation of digits Bulbous nose Foot acroosteolysis Ainhum Mononeuropathy Growth delay Hypertension Myopia Optic atrophy Behavioral abnormality Depressivity Corneal opacity Malignant hyperthermia Dolichocephaly Nausea Tachycardia EMG abnormality Autistic behavior Glomerulosclerosis Hyponatremia Emotional lability Genu valgum Agitation Glomerulopathy Aseptic necrosis Micromelia Tented upper lip vermilion Camptodactyly of finger Myopathic facies Cognitive impairment Abnormality of the skeletal system Pes planus Camptodactyly Arthrogryposis multiplex congenita Arachnodactyly Inability to walk Hip dysplasia Joint contracture of the hand Sandal gap Poor head control Impaired vibratory sensation Sensory axonal neuropathy Long nose Demyelinating peripheral neuropathy Narrow nasal bridge Distal arthrogryposis Impaired proprioception Sensory ataxia Impaired tactile sensation Achalasia Ventriculomegaly Cardiomyopathy Edema Myopathy Dilatation Adrenal insufficiency Nasal speech Anisocoria Chronic constipation Acidosis Orofacial dyskinesia Cerebellar atrophy Cerebral atrophy Visual loss Babinski sign Reduced visual acuity Photophobia Mental deterioration Ophthalmoplegia Psychosis Macular degeneration Cone/cone-rod dystrophy Dysdiadochokinesis Ophthalmoparesis Restless legs Syringomyelia Hemeralopia Abnormal fundus morphology Hyperreflexia Downslanted palpebral fissures Long philtrum Abnormal heart morphology Joint laxity Abnormal cardiac septum morphology Smooth philtrum Wide nose Triangular face Failure to thrive in infancy Onion bulb formation Respiratory failure Hypoglycemia Spasticity Blindness Microcephaly Low-set ears Absent speech Short philtrum Neurological speech impairment Long face Joint hypermobility Everted lower lip vermilion Brain atrophy Delayed myelination Open mouth Stereotypy Plagiocephaly Recurrent upper respiratory tract infections Acute hepatic steatosis Supernumerary nipple Cortical dysplasia Obstructive sleep apnea Facial hypotonia Diastasis recti Tented philtrum Abnormality of the renal collecting system Intrauterine growth retardation Abnormality of the dentition Hypothyroidism Osteopenia Skeletal dysplasia Abnormality of the eye Respiratory failure requiring assisted ventilation Exercise-induced rhabdomyolysis Elevated hepatic transaminase Generalized muscle weakness Myalgia Respiratory tract infection Abnormality of the liver Retinopathy Small for gestational age Dilated cardiomyopathy Lethargy Lactic acidosis Hepatic failure Hepatic steatosis Metabolic acidosis Coma Muscle cramps Pigmentary retinopathy Prenatal maternal abnormality Hydrops fetalis Decreased liver function Cardiac arrest Tachypnea Hyperammonemia Tricuspid regurgitation Rhabdomyolysis Myoglobinuria Hypoparathyroidism Hypoketotic hypoglycemia Skeletal myopathy Progressive peripheral neuropathy Abnormality of the amniotic fluid Recurrent myoglobinuria Recurrent pyelonephritis


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