Intrauterine growth retardation, and Dysphagia

Diseases related with Intrauterine growth retardation and Dysphagia

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Dysphagia that can help you solving undiagnosed cases.

Top matches:

Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by Tummala et al., 2016).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 3; BMFS3

Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17 Is also known as coxpd17

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17

Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (OMIM ).

NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME Is also known as coq4-related neonatal encephalomyopathy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Feeding difficulties
  • Intrauterine growth retardation


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME

Other less relevant matches:

Pontocerebellar hypoplasia type 1D is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by Burns et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1D; PCH1D

Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

Medium match LEPRECHAUNISM

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome|alpers-huttenlocher syndrome|pndc|alpers progressive infantile poliodystrophy|progressive neuronal degeneration of childhood with liver disease|neuronal degeneration of childhood with liver disease, progressive|alpers diffuse degeneration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPERS-HUTTENLOCHER SYNDROME

X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Dysphagia

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Dysphagia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Intellectual disability Ataxia Lactic acidosis Acidosis Short stature Increased serum lactate Cognitive impairment Dementia Dystonia Cerebellar atrophy Neuronal loss in central nervous system Oral-pharyngeal dysphagia Motor delay Hyperreflexia Spasticity Hearing impairment Myoclonus Feeding difficulties Tremor Developmental regression Neonatal hypotonia Paralysis Mental deterioration Hypertonia Abnormality of movement Hepatomegaly Respiratory failure Low-set ears Progressive neurologic deterioration Nystagmus Hypertrophic cardiomyopathy Hypertelorism Cardiomyopathy Muscular hypotonia Clumsiness Encephalopathy

Rare Symptoms - Less than 30% cases

Recurrent respiratory infections Generalized muscle weakness Dysarthria Vomiting Respiratory tract infection Gait disturbance Neurological speech impairment Ventriculomegaly Slurred speech Jaundice Generalized tonic-clonic seizures Ophthalmoplegia Cirrhosis Neurodegeneration Tetraplegia Progressive encephalopathy Spastic tetraplegia Athetosis Schizophrenia Thrombocytopenia Spastic diplegia Choreoathetosis Psychosis Memory impairment Chorea Gliosis Abnormal pyramidal sign Abnormality of the liver Rigidity Cerebral atrophy Abnormality of eye movement Short neck Abnormality of mitochondrial metabolism Postnatal growth retardation Respiratory insufficiency Scoliosis Hirsutism High, narrow palate Blindness Cholestasis Epileptic encephalopathy Dilated cardiomyopathy Congestive heart failure Hepatic fibrosis Severe failure to thrive Hyperkeratosis Visual impairment Cerebellar hypoplasia Pneumonia Proptosis High palate Astrocytosis Optic atrophy Macrotia Flexion contracture Coma Small face Fetal akinesia sequence Increased CSF protein Ovarian cyst Celiac disease Abnormality of visual evoked potentials Concave nasal ridge Fasting hypoglycemia Visual loss Progressive spasticity Long penis Phonic tics Tics 3-Methylglutaconic aciduria Gastrointestinal dysmotility Long foot Bile duct proliferation Microvesicular hepatic steatosis Thickened nuchal skin fold Micronodular cirrhosis Hearing abnormality Gastric ulcer Severe intrauterine growth retardation Chronic hepatitis Multifocal seizures Cerebral degeneration Lipoatrophy Areflexia Akinesia Thick nasal alae Postprandial hyperglycemia Brain atrophy Fever Micrognathia Asymmetry of the breasts Hepatic failure Prominent nipples Peripheral axonal neuropathy Aciduria Focal-onset seizure Adipose tissue loss Generalized-onset seizure Abnormality of the eye Elfin facies Elevated hepatic transaminase Hepatitis Peripheral neuropathy Female pseudohermaphroditism Absence of subcutaneous fat Status epilepticus Hemiparesis Decreased liver function Retrognathia Paraparesis Spastic paraparesis Pancreatic islet-cell hyperplasia Abnormality of the abdominal wall Intellectual disability, progressive Hyperactivity Abnormality of vision Encephalitis Cerebral visual impairment Hip dysplasia Epilepsia partialis continua Muscle weakness Retinopathy Proximal muscle weakness Babinski sign Arrhythmia Absent speech Diarrhea Myopathy Ptosis Abnormality of the septum pellucidum Pigmentary retinopathy Talipes cavus equinovarus Prominent protruding coccyx Broad chin Thickened ears Prominent coccyx Caesarian section Sleep-wake cycle disturbance Short digit Generalized myoclonic seizures Mitral regurgitation Nasolacrimal duct obstruction Ketonuria Left ventricular systolic dysfunction Abnormal mitochondria in muscle tissue Decreased activity of mitochondrial complex II Progressive leukoencephalopathy Increased intramyocellular lipid droplets Hemolytic-uremic syndrome Paraganglioma Left ventricular noncompaction Preeclampsia Leukodystrophy Ketosis Rhabdomyolysis Easy fatigability Ragged-red muscle fibers Leukoencephalopathy External ophthalmoplegia Exercise intolerance Congenital hip dislocation Toenail dysplasia Thickened helices Ethylmalonic aciduria Long philtrum Anxiety Deeply set eye Thin upper lip vermilion Osteopenia Gastroesophageal reflux Prominent forehead Constipation Pectus excavatum Kyphosis Autistic behavior Hypoplasia of the corpus callosum Anteverted nares Downslanted palpebral fissures Myopia Brachydactyly Delayed speech and language development Strabismus Cerebral cortical neurodegeneration Protruding ear Sparse hair Gait imbalance Microretrognathia Depressed nasal tip Aplasia cutis congenita Flat occiput Chronic otitis media Prominent supraorbital ridges Delayed gross motor development Sacral dimple Reduced tendon reflexes Pointed chin Attention deficit hyperactivity disorder Cerebellar vermis hypoplasia Eczema Hypermelanotic macule Broad nasal tip Bulbous nose Joint hypermobility Long face Synophrys Reduced subcutaneous adipose tissue Sea-blue histiocytosis Decreased muscle mass Corneal opacity Parkinsonism Abnormal cerebellum morphology Postural instability Dyskinesia Vertigo Dysmetria Gait ataxia Cerebral calcification Depressivity Headache Fatigue Hypertension Pain Fractures of the long bones Weak cry Urinary incontinence Bradykinesia Poor head control Frontotemporal dementia Alcoholism Pseudohypoparathyroidism Orofacial dyskinesia Focal dystonia Calcinosis Abnormal lower motor neuron morphology Lewy bodies Bipolar affective disorder Abnormality of extrapyramidal motor function Basal ganglia calcification Abnormality of neuronal migration Mask-like facies Emotional lability Dysdiadochokinesis Muscle stiffness Broad-based gait Adducted thumb Fasciculations Subcutaneous hemorrhage Myeloid leukemia Hyperalaninemia Abnormality of the basal ganglia Infantile muscular hypotonia Metabolic acidosis Sensorineural hearing impairment Chromosome breakage Acute myeloid leukemia Bone marrow hypocellularity Decreased activity of mitochondrial complex I Pancytopenia Microdontia Hypodontia Retinal dystrophy Abnormality of skin pigmentation Leukemia Neoplasm Cytochrome C oxidase-negative muscle fibers Oroticaciduria Decreased fetal movement Neonatal respiratory distress Inability to walk Arthrogryposis multiplex congenita Hyporeflexia Epicanthus Decreased activity of mitochondrial respiratory chain Motor deterioration Hypoplastic left heart Bradycardia Abnormal mitochondrial morphology Polyneuropathy EEG abnormality Patent ductus arteriosus Respiratory distress Hyperglutaminemia Decreased activity of mitochondrial complex IV Myocardial necrosis Mood swings Limb dysmetria Glucose intolerance Inguinal hernia Wide mouth Feeding difficulties in infancy Low-set, posteriorly rotated ears Hypoglycemia Umbilical hernia Severe short stature Delayed skeletal maturation Hernia Thick vermilion border Recurrent infections Skeletal muscle atrophy Depressed nasal bridge Cryptorchidism Abnormal facial shape Fatal liver failure in infancy Low cholesterol esterification rates Small for gestational age Abdominal distention Foam cells in visceral organs and CNS Acanthosis nigricans Hyperglycemia Large hands Clitoral hypertrophy Precocious puberty Hyperinsulinemia Cachexia Cutis laxa Generalized hirsutism Nail dysplasia Gynecomastia Insulin resistance Gingival overgrowth Hypertrichosis Thick lower lip vermilion Epidermal acanthosis Type II diabetes mellitus Abnormal cholesterol homeostasis Congenital thrombocytopenia Focal motor seizures Hepatosplenomegaly Ascites Sleep disturbance Bruising susceptibility Retinal degeneration Abnormality of the cerebral white matter Skin rash Abnormality of the nervous system Splenomegaly Mitral valve prolapse Behavioral abnormality Anemia Dense calcifications in the cerebellar dentate nucleus Calcification of the small brain vessels Pill-rolling tremor Progressive choreoathetosis Micrographia Oligohydramnios Intellectual disability, profound Fetal ascites Aplasia/Hypoplasia of the abdominal wall musculature Rapid neurologic deterioration Bone-marrow foam cells Supranuclear ophthalmoplegia Cataplexy Vertical supranuclear gaze palsy Visceromegaly Foam cells Spastic dysarthria Intention tremor Supranuclear gaze palsy Head tremor Trismus Loss of speech Neurofibrillary tangles Prolonged neonatal jaundice Dysphonia Stress/infection-induced lactic acidosis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Arthralgia, related diseases and genetic alterations