Delayed speech and language development, and Cyanosis

Diseases related with Delayed speech and language development and Cyanosis

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Cyanosis that can help you solving undiagnosed cases.


Top matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM MONDO GARD UMLS

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18

Early infantile epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ptosis


SOURCES: OMIM ORPHANET UMLS MONDO

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18

Medium match GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1

GLUT1 deficiency syndrome-1 is a neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental retardation. Hypoglycorrhachia (low CSF glucose, less than 40 mg/dl) and low CSF lactate are essentially diagnostic for the disorder. As more cases with GLUT1 deficiency syndrome were described, the phenotype was broadened to include individuals with ataxia and mental retardation but without seizures, individuals with dystonia and choreoathetosis, and rare individuals with absence seizures and no movement disorder. The disorder, which results from a defect in the GLUT1 glucose transporter causing decreased glucose concentration in the central nervous system, is part of a spectrum of neurologic phenotypes resulting from GLUT1 deficiency. GLUT deficiency syndrome-2 (OMIM ) represents the less severe end of the phenotypic spectrum and is associated with paroxysmal exercise-induced dystonia with or without seizures. Correct diagnosis of GLUT1 deficiency is important because a ketogenic diet often results in marked clinical improvement of the motor and seizure symptoms (reviews by Pascual et al., 2004 and Brockmann, 2009).

GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 Is also known as glucose transport defect, blood-brain barrier;de vivo disease; glucose transporter type 1 deficiency; glut-1 deficiency syndrome; glut1-ds

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay


SOURCES: MESH ORPHANET OMIM GARD MONDO UMLS

More info about GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14

Early infantile epileptic encephalopathy-14 is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MONDO UMLS

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14

Medium match PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3 Is also known as pituitary hormone deficiency, combined, with rigid cervical spine, deafness, sensorineural, with pituitary dwarfism;non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM MONDO ORPHANET UMLS

More info about PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3

Medium match HELSMOORTEL-VAN DER AA SYNDROME; HVDAS

HELSMOORTEL-VAN DER AA SYNDROME; HVDAS Is also known as mental retardation, autosomal dominant 28;mrd28;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MONDO GARD DOID OMIM ORPHANET UMLS

More info about HELSMOORTEL-VAN DER AA SYNDROME; HVDAS

Medium match PITT-HOPKINS SYNDROME; PTHS

The Pitt-Hopkins syndrome is characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea (Zweier et al., 2007).See also Pitt-Hopkins-like syndrome-1 (OMIM ), caused by mutation in the CNTNAP2 gene (OMIM ) on chromosome 7q35, and Pitt-Hopkins-like syndrome-2 (OMIM ), caused by mutation in the NRXN1 gene (OMIM ) on chromosome 2p16.3.

PITT-HOPKINS SYNDROME; PTHS Is also known as encephalopathy, severe epileptic, with autonomic dysfunction, mental retardation, syndromal, with intermittent hyperventilation;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS OMIM ORPHANET MONDO MESH NCIT DOID SCTID GARD

More info about PITT-HOPKINS SYNDROME; PTHS

Medium match COLD-INDUCED SWEATING SYNDROME 1; CISS1

Cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Cold-Induced Sweating SyndromeCold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome, sohar-crisponi syndrome, muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death;ciss

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica


SOURCES: MONDO OMIM UMLS GARD ORPHANET MESH

More info about COLD-INDUCED SWEATING SYNDROME 1; CISS1

Medium match PRADER-WILLI SYNDROME; PWS

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM

More info about PRADER-WILLI SYNDROME; PWS

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8; EIEE8

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8; EIEE8 Is also known as hyperekplexia and epilepsy;

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Motor delay
  • Intellectual disability, severe


SOURCES: UMLS DOID MONDO MESH OMIM ORPHANET

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8; EIEE8

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Cyanosis

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Encephalopathy Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Delayed speech and language development and Cyanosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Autosomal recessive inheritance Intellectual disability, severe Epileptic encephalopathy Motor delay Absent speech Microcephaly Hypertonia Strabismus Muscular hypotonia of the trunk Feeding difficulties Apnea Cryptorchidism Depressed nasal bridge Autosomal dominant inheritance Specific learning disability Short neck Failure to thrive Full cheeks Pica Growth delay Short stature Attention deficit hyperactivity disorder Wide nasal bridge Scoliosis Tapered finger Carious teeth Micropenis Focal seizures Ataxia Spasticity Fever Clinodactyly Hypoplasia of the corpus callosum Status epilepticus Sleep disturbance Hyporeflexia Small hand Short nose Muscular hypotonia Abnormal facial shape

Rare Symptoms - Less than 30% cases


Obesity Radial deviation of finger Pneumonia Respiratory distress Nasal speech Milia Intellectual disability, progressive Pruritus Myopathy Narrow forehead Hypopigmentation of the skin Myopia Hearing impairment Anteverted nares Hyperactivity Kyphosis Joint hypermobility Growth hormone deficiency Temperature instability Hypopnea Increased body weight Upslanted palpebral fissure Micrognathia Abnormality of the pinna Prominent forehead Neonatal hypotonia Sleep apnea Highly arched eyebrow Autism Polyhydramnios Hyperreflexia Cognitive impairment Astigmatism Talipes equinovarus Edema Absence seizures Generalized seizures Respiratory tract infection Narrow mouth EEG abnormality Pain Downslanted palpebral fissures Ptosis Multifocal seizures Involuntary movements Choreoathetosis Nevus Widely spaced teeth Dystonia Hypermetropia Infantile onset Myoclonus Polymicrogyria Gastroesophageal reflux Central apnea Short palm Dolichocephaly Thin upper lip vermilion Progressive microcephaly Generalized myoclonic seizures Postnatal microcephaly Acrocyanosis Autistic behavior Intellectual disability, moderate Pes planus Vomiting Ventriculomegaly Neoplasm Epicanthus Congestive heart failure Syndactyly Behavioral abnormality Cold-induced sweating Intrauterine growth retardation Hypertension Intellectual disability, mild Dilatation Nystagmus Tics Abnormality of the dentition Phimosis Facial tics Hyperhidrosis Wide nose Irritability Camptodactyly Blepharophimosis Dyspnea Facial palsy Feeding difficulties in infancy Kyphoscoliosis Respiratory failure Round face Mandibular prognathia Retrognathia Malar flattening Long philtrum Renal insufficiency High palate Low-set ears Flexion contracture Falls Underdeveloped nasal alae Smooth tongue Episodic fever Unexplained fevers Hypernatremic dehydration Bilateral camptodactyly Velopharyngeal insufficiency Large face Trismus Narrow nose Functional respiratory abnormality Acute kidney injury Recurrent urinary tract infections Disproportionate tall stature Overlapping toe Opisthotonus Limited elbow extension Keratitis Osteoporosis Adducted thumb Elbow flexion contracture Dehydration Recurrent respiratory infections Amenorrhea Diabetes mellitus Hypoventilation Oligomenorrhea Myeloid leukemia Ocular albinism Abnormality of lipid metabolism Overweight Hypoplasia of the fovea Iris hypopigmentation Central hypotonia Striae distensae Narrow nasal bridge Impaired pain sensation Intestinal bleeding Hypopigmentation of hair Polyphagia Inflammation of the large intestine External genital hypoplasia Truncal obesity Infantile muscular hypotonia Chromosome breakage Hypothermia Decreased muscle mass Disseminated intravascular coagulation X-linked recessive inheritance Congenital onset Acromicria Poor gross motor coordination Almond-shaped palpebral fissure Hypoplastic labia minora Narrow palm Central adrenal insufficiency Psychotic episodes Labial hypoplasia Triangular mouth Erysipelas Poor fine motor coordination Clitoral hypoplasia Abdominal obesity Anteverted ears Frontal upsweep of hair Cor pulmonale Generalized hypopigmentation Adrenal insufficiency Failure to thrive in infancy Hypogonadism Stroke Gastrointestinal hemorrhage Spontaneous abortion Febrile seizures Esotropia Sepsis Infertility Leukemia Short foot Downturned corners of mouth Hip dysplasia Arachnodactyly Genu valgum Delayed puberty Abnormality of the nervous system Weight loss Sporadic Hypoglycemia Photophobia Osteopenia Oligohydramnios Type II diabetes mellitus Glucose intolerance Hyperinsulinemia Skeletal muscle hypertrophy Large hands Albinism Scrotal hypoplasia Poor suck Emotional lability Precocious puberty Narrow palpebral fissure Bicuspid aortic valve Decreased fetal movement Hypogonadotrophic hypogonadism Bradycardia Insulin resistance Aortic valve stenosis Clumsiness Abnormality of the cardiovascular system Cutaneous photosensitivity Primary amenorrhea Psychosis Cleft palate Convex nasal ridge Overhanging nasal tip Sensorineural hearing impairment Hyperextensible skin Small nail Hyperlordosis Skeletal dysplasia Jaundice Severe short stature Abnormality of the skeletal system Focal motor seizures Thoracic kyphosis Flushing Muscle fibrillation Developmental stagnation Epileptic spasms Poor eye contact Hypsarrhythmia Neuronal loss in central nervous system Hypopituitarism Panhypopituitarism Tetraplegia Cataract Joint laxity Abnormal heart morphology Recurrent infections Hernia Inguinal hernia Abnormality of cardiovascular system morphology Visual impairment Hypothalamic luteinizing hormone-releasing hormone deficiency Pituitary hypothyroidism Thoracolumbar kyphoscoliosis Abnormal anterior horn cell morphology Prolactin deficiency Pituitary dwarfism Lumbar kyphosis Anterior pituitary hypoplasia Gonadotropin deficiency Adrenocorticotropic hormone deficiency Delayed myelination Gliosis Coloboma Laterally extended eyebrow Lethargy Abnormality of movement Mental deterioration Headache Babinski sign Abnormality of metabolism/homeostasis Dysarthria Thick corpus callosum Chorea Cavum septum pellucidum Loss of consciousness Drooling High forehead Focal clonic seizures Athetosis Hypodontia Abnormality of eye movement Dyskinesia Paralysis Developmental regression Generalized hyperreflexia Clonus Progressive Cerebral cortical atrophy Arrhythmia Paroxysmal lethargy Paroxysmal involuntary eye movements Hypoglycorrhachia Extrapyramidal dyskinesia Confusion Abnormal erythrocyte morphology Paroxysmal dystonia Paroxysmal dyskinesia Atonic seizures Muscle stiffness Focal seizures with impairment of consciousness or awareness Hemiparesis Apraxia Anxiety Microtia Broad fingertip Mutism Aphasia Self-injurious behavior Dysphasia Clubbing Supernumerary nipple Cupped ear Incoordination Finger clinodactyly Hodgkin lymphoma Coarse hair Short metatarsal Abnormal palate morphology Hypopigmented skin patches Aplasia/Hypoplasia of the corpus callosum Macule Truncal ataxia Aganglionic megacolon Abnormal autonomic nervous system physiology Misalignment of teeth Abdominal distention Breathing dysregulation Triangular nasal tip Narrow foot Intermittent hyperventilation Small cerebral cortex Failure of eruption of permanent teeth Square face Large beaked nose Happy demeanor Hiatus hernia Abnormal pattern of respiration Thickened helices Pes valgus Hyperventilation Abnormality of the helix Clubbing of fingers Esophagitis Echolalia Open mouth Prominent nose Broad forehead Amblyopia Eyelid coloboma Inverted nipples Long palpebral fissure Obsessive-compulsive behavior Bilateral ptosis Language impairment Plagiocephaly Stereotypy Juvenile cataract Exotropia Cortical visual impairment Sparse scalp hair Broad thumb Thick lower lip vermilion Hirsutism Iris coloboma Smooth philtrum Abnormality of finger Generalized neonatal hypotonia Wide intermamillary distance Short philtrum Thick vermilion border Single transverse palmar crease Thick eyebrow Severe global developmental delay Deeply set eye Neurological speech impairment Prominent nasal bridge Postnatal growth retardation Cyanotic episode Wide mouth Protruding ear Aggressive behavior Coarse facial features Gait ataxia Constipation Pes cavus Hypertelorism Exaggerated startle response



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Abnormal bleeding, related diseases and genetic alterations Hepatomegaly and Bradycardia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more