Delayed speech and language development, and Anorexia

Diseases related with Delayed speech and language development and Anorexia

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


Top matches:

Medium match CHROMOSOME 3q29 DELETION SYNDROME

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

CHROMOSOME 3q29 DELETION SYNDROME Is also known as microdeletion 3q29 syndrome;3q subtelomere deletion syndrome; 3qter deletion; del(3)(q29); monosomy 3q29; monosomy 3qter

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Pica
  • Microcephaly


SOURCES: OMIM MONDO ORPHANET UMLS SCTID MESH GARD DOID

More info about CHROMOSOME 3q29 DELETION SYNDROME

Medium match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD

type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD Is also known as cbld defect; cobalamin d defect; combined defect in adenosylcobalamin and methylcobalamin synthesis, type cbld; methylmalonic aciduria with homocystinuria, type cbld

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Gait disturbance


SOURCES: SCTID UMLS ORPHANET

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD

Medium match NEPHROGENIC DIABETES INSIPIDUS

Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive


SOURCES: UMLS ICD10 ORPHANET

More info about NEPHROGENIC DIABETES INSIPIDUS

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Other less relevant matches:

Medium match CYCLIC VOMITING SYNDROME; CVS

Related symptoms:

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


SOURCES: MONDO ICD10 GARD OMIM UMLS SCTID

More info about CYCLIC VOMITING SYNDROME; CVS

Medium match HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

Holocarboxylase synthetase deficiency, a biotin-responsive multiple carboxylase deficiency (MCD), is characterized by metabolic acidosis, lethargy, hypotonia, convulsions, and dermatitis. Most patients present in the newborn or early infantile period, but some become symptomatic in the later infantile period (summary by Suzuki et al., 2005).Also see biotinidase deficiency (OMIM ), another form of MCD with a later onset.Care must be taken to differentiate the inherited multiple carboxylase deficiencies from acquired biotin deficiencies, such as those that develop after excessive dietary intake of avidin, an egg-white glycoprotein that binds specifically and essentially irreversibly to biotin (Sweetman et al., 1981) or prolonged parenteral alimentation without supplemental biotin (Mock et al., 1981).

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Is also known as hlcs deficiency, multiple carboxylase deficiency, neonatal form, multiple carboxylase deficiency, early onset;early-onset multiple carboxylase deficiency; neonatal multiple carboxylase deficiency

Related symptoms:

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


SOURCES: NCIT SCTID OMIM ORPHANET GARD ICD10 DOID MONDO MESH

More info about HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

Medium match ARGININEMIA

Arginase deficiency is an autosomal recessive inborn error of metabolism caused by a defect in the final step in the urea cycle, the hydrolysis of arginine to urea and ornithine.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (OMIM ), carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency.

ARGININEMIA Is also known as arginase deficiency, hyperargininemia, arg1 deficiency;arginase deficiency; hyperargininemia

Related symptoms:

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


SOURCES: NCIT GARD DOID ICD10 ORPHANET SCTID OMIM UMLS MONDO MESH

More info about ARGININEMIA

Medium match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as partial deficiency of methylmalonyl-coa mutase; vitamin b12-unresponsive methylmalonic aciduria type mut-

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Medium match PORPHYRIA, ACUTE INTERMITTENT; AIP

Porphyrias are inherited defects in the biosynthesis of heme. Acute intermittent porphyria, the most common form of porphyria, is an autosomal dominant disorder characterized by recurrent attacks of abdominal pain, gastrointestinal dysfunction, and neurologic disturbances. In the classic form of AIP, both the ubiquitous 'nonerythroid' housekeeping HMBS isoform and the 'erythroid' HMBS isoform are deficient. However, about 5% of families have the 'nonerythroid variant' of AIP, with a defect only in the ubiquitous nonerythroid HMBS isoform and normal levels of the erythroid HMBS isoform. Clinical characteristics in the 2 forms are identical; diagnostic methods based on the level of enzyme in erythrocytes is ineffective (Puy et al., 1998; Petrides, 1998; Whatley et al., 2000).There are several other forms of porphyria: see porphyria cutanea tarda (OMIM ), variegata porphyria (OMIM ), coproporphyria (OMIM ), acute hepatic porphyria (OMIM ), and congenital erythropoietic porphyria (OMIM ).

PORPHYRIA, ACUTE INTERMITTENT; AIP Is also known as porphyria, swedish type, porphobilinogen deaminase deficiency, pbgd deficiency, uroporphyrinogen synthase deficiency, ups deficiency;

Related symptoms:

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


SOURCES: MONDO OMIM DOID GARD MESH SCTID ORPHANET NCIT

More info about PORPHYRIA, ACUTE INTERMITTENT; AIP

Medium match FOLATE MALABSORPTION, HEREDITARY

Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate deficiency that appear within a few months after birth. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. The disorder is caused by impaired intestinal folate absorption and impaired transport of folate into the central nervous system (summary by Qiu et al., 2006).

FOLATE MALABSORPTION, HEREDITARY Is also known as ;congenital folate malabsorption

Related symptoms:

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


SOURCES: MESH MONDO ORPHANET OMIM GARD SCTID

More info about FOLATE MALABSORPTION, HEREDITARY

Medium match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA

Thiamine-responsive megaloblastic anemia syndrome comprises megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke (summary by Bergmann et al., 2009). Genetic Heterogeneity of Disorders Due to Thiamine Metabolism DysfunctionSee also episodic encephalopathies due to defects in thiamine metabolism: biotin-responsive basal ganglia disease (THMD2 ), caused by mutation in the SLC19A3 gene (OMIM ) on chromosome 2q36; Amish lethal microcephaly (THMD3 ) and bilateral striatal necrosis and progressive polyneuropathy (THMD4 ), both caused by mutation in the SLC25A19 gene (OMIM ) on chromosome 17q25; and THMD5 (OMIM ), caused by mutation in the TPK1 gene (OMIM ) on chromosome 7q35.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA Is also known as thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type);thmd1, megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness, rogers syndrome, thiamine-responsive anemia syndrome, thiamine-responsive myelodysplasia;rogers syndrome; trma; thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: OMIM DOID ICD10 ORPHANET UMLS MONDO SCTID GARD MESH

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Pica Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Lethargy

Uncommon Symptoms - Between 30% and 50% cases


Behavioral abnormality

Common Symptoms - More than 50% cases


Nausea and vomiting

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Vomiting Thrombocytopenia Anemia Autosomal recessive inheritance Diarrhea Generalized hypotonia Muscular hypotonia Growth delay Pallor Cardiomyopathy Motor delay Renal insufficiency Gastroesophageal reflux Abdominal pain Nausea Abnormality of movement Hypertonia Hyperammonemia Irritability Microcephaly Gait disturbance Neutropenia

Rare Symptoms - Less than 30% cases


Weight loss Immunodeficiency Megaloblastic anemia Macrocytic anemia Pancytopenia Short stature Paresthesia Feeding difficulties Arrhythmia Constipation Stroke Hearing impairment Muscle weakness Splenomegaly Feeding difficulties in infancy Pain Optic atrophy Paraparesis Aminoaciduria Headache Athetosis Hyperhidrosis Hepatomegaly Tachypnea Aciduria Coma Respiratory distress Aspiration Autosomal dominant inheritance Attention deficit hyperactivity disorder Autism Anxiety Depressivity Cognitive impairment Hypertension Hyperactivity Diaphragmatic paralysis Dysuria Urinary retention Insomnia Abnormal urinary color Psychotic episodes Hypertensive crisis Hepatocellular carcinoma Red urine Oral cleft Paralytic ileus Respiratory paralysis Elevated urinary delta-aminolevulinic acid Hyperlipidemia Acute episodes of neuropathic symptoms Nevus Peripheral neuropathy Hyperreflexia Skeletal muscle atrophy Infantile onset Tremor Pneumonia Hyponatremia Hallucinations Cranial nerve paralysis Choreoathetosis Hyperlysinuria Progressive spastic quadriplegia Oroticaciduria Diaminoaciduria Downslanted palpebral fissures Dysarthria Dystonia High palate Epicanthus Low-set ears Dehydration Recurrent infections Pancreatitis Intellectual disability, mild Arthralgia Myalgia Hepatosplenomegaly Nephropathy Tachycardia Milia Paralysis Urinary incontinence Stage 5 chronic kidney disease Cutaneous photosensitivity Recurrent respiratory infections Acrania Respiratory tract infection Bilateral sensorineural hearing impairment Ventricular septal defect Atrial septal defect Congestive heart failure Diabetes mellitus Visual loss Hypoglycemia Retinal degeneration Abnormal cardiac septum morphology Retinal dystrophy Abnormality of the skin Amenorrhea Situs inversus totalis Sensorineural hearing impairment Hoarse voice Cone/cone-rod dystrophy Cardiac arrest Polycystic ovaries Myelodysplasia Hyperglycemia Secondary amenorrhea Ovarian cyst Abdominal situs inversus Sideroblastic anemia Paroxysmal atrial tachycardia Cryptorchidism Nystagmus Malabsorption Eosinophilia Cerebral edema Sepsis Dyskinesia Decreased antibody level in blood Cerebral calcification Focal seizures Cataract Chronic diarrhea Recurrent urinary tract infections Leukopenia Recurrent upper respiratory tract infections Increased body weight Folate-responsive megaloblastic anemia Abnormality of the immune system Basal ganglia calcification Abnormal facial shape Drowsiness Proximal amyotrophy Micrognathia Oral ulcer Cheilitis Normocytic anemia Glossitis Folate deficiency Loss of ability to walk Loss of consciousness Cystinuria Functional abnormality of the bladder Polyhydramnios Small for gestational age Pectus carinatum Polydipsia Hydroureter Hypovolemia Nephrogenic diabetes insipidus Hypernatremia Enuresis nocturna Hyposthenuria Hypernatremic dehydration Fever Prominent nasal bridge Strabismus Short philtrum Sporadic Myopathy Joint laxity Aggressive behavior Thin upper lip vermilion Intellectual disability, moderate Macrotia Photophobia Joint hyperflexibility Cleft lip Gait ataxia Nasal speech Otitis media Recurrent otitis media Pulmonary arterial hypertension Dental crowding Aortic valve stenosis Narrow face Prominent nose Horseshoe kidney Stereotypy Sandal gap Single transverse palmar crease Shallow orbits Facial asymmetry Bipolar affective disorder Broad face Subvalvular aortic stenosis Six lumbar vertebrae Tapered finger Fatigue Abnormality of skin pigmentation Everted lower lip vermilion Long face Megaloblastic bone marrow Pulmonic stenosis Migraine Exercise intolerance Reduced consciousness/confusion Lower limb muscle weakness Spasticity Abnormality of the dentition Edema Intellectual disability, severe Encephalopathy EEG abnormality Postnatal growth retardation Developmental regression Neurological speech impairment Spastic paraplegia Limb muscle weakness Talipes Congenital lactic acidosis Paraplegia Tetraplegia Spastic tetraplegia Short nose Frontal bossing Spastic paraparesis Macrocephaly Cerebral palsy Hemiplegia/hemiparesis Spastic diplegia Psychosis Perioral eczema Desquamation of skin soon after birth Multifactorial inheritance Clinodactyly of the 5th finger Abnormality of mitochondrial metabolism Mitochondrial inheritance Gastrointestinal dysmotility Abnormality of the genital system Clinodactyly Posteriorly rotated ears Hernia Alopecia Erythema Acidosis Patent ductus arteriosus Skin rash Keratoconjunctivitis Hypospadias Lactic acidosis Metabolic acidosis Pectus excavatum Eczema Inflammatory abnormality of the skin Conjunctivitis Inguinal hernia Microphthalmia Organic aciduria Hyperventilation Thiamine-responsive megaloblastic anemia


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