Delayed speech and language development, and Jaundice

Diseases related with Delayed speech and language development and Jaundice

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


Top matches:

Medium match CRIGLER-NAJJAR SYNDROME TYPE 1

Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).

CRIGLER-NAJJAR SYNDROME TYPE 1 Is also known as bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; bilirubin-ugt deficiency type 1; hereditary unconjugated hyperbilirubinemia type 1; ugt deficiency type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Delayed speech and language development
  • Tremor


SOURCES: ORPHANET SCTID

More info about CRIGLER-NAJJAR SYNDROME TYPE 1

Medium match GALACTOSE EPIMERASE DEFICIENCY

Epimerase-deficiency galactosemia was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells (Gitzelmann, 1972). Fibroblasts, liver, phytohemagglutinin-stimulated leukocyes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal GALT activity, presented with symptoms reminiscent of classic galactosemia and demonstrated severely impaired GALE activity in both red blood cells and fibroblasts (Holton et al., 1981). This form was designated 'generalized' epimerase deficiency. Openo et al. (2006) demonstrated that epimerase deficiency is in fact not a binary condition but is, rather, a continuum disorder.GALE encodes the third enzyme in the Leloir pathway of galactose metabolism. Galactosemia I is classic galactosemia (OMIM ), caused by deficiency of the second enzyme in the Leloir pathway, galactose-1-phosphate uridylyl-transferase (GALT ). Galactosemia II (OMIM ) is caused by deficiency of the first enzyme in the Leloir pathway, galactokinase (GALK ).

GALACTOSE EPIMERASE DEFICIENCY Is also known as gale deficiency, galactosemia iii, udp-galactose-4-epimerase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET SCTID OMIM UMLS

More info about GALACTOSE EPIMERASE DEFICIENCY

Medium match JOUBERT SYNDROME 8; JBTS8

Related symptoms:

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


SOURCES: OMIM MESH MONDO DOID UMLS

More info about JOUBERT SYNDROME 8; JBTS8

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Other less relevant matches:

Medium match LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.

LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lcad

Related symptoms:

  • Generalized hypotonia
  • Myopathy
  • Feeding difficulties
  • Hepatomegaly
  • Vomiting


SOURCES: UMLS ORPHANET

More info about LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

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 STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; SDCHCN

Stomatin-deficient cryohydrocytosis with neurologic defects is an autosomal dominant disorder characterized by delayed psychomotor development, seizures, cataracts, and pseudohyperkalemia resulting from defects in the red blood cell membrane. The disorder combines the neurologic features of Glut1 deficiency syndrome-1 (GLUT1DS1 ), resulting from impaired glucose transport at the blood-brain barrier, and hemolytic anemia/pseudohyperkalemia with stomatocytosis, resulting from a cation leak in erythrocytes (summary by Bawazir et al., 2012).For a discussion of clinical and genetic heterogeneity of red cell stomatocyte disorders, see {194380}.

STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; SDCHCN Is also known as glut1 deficiency syndrome with pseudohyperkalemia and hemolysis, cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly;chc type 2; hereditary cryohydrocytosis type 2; stomatin-deficient cryohydrocytosis; sdchc

Related symptoms:

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


SOURCES: ORPHANET MONDO MESH OMIM UMLS

More info about STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; SDCHCN

Medium match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency;gsd due to phosphoglycerate kinase 1 deficiency; glycogenosis due to phosphoglycerate kinase 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH GARD MONDO OMIM ORPHANET NCIT UMLS

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Medium match PROLIDASE DEFICIENCY

Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. The disorder is clinically heterogeneous and severity varies widely. Features include chronic, slowly healing ulcerations, mainly on the legs and feet. The ulcers are often preceded by other dermatologic manifestations that may occur anywhere and include erythematous papular eruptions, telangiectasias with pruritus and photosensitivity, impetigo-like eruptions, pruritic eczematous lesions, and necrotic papules. Mild to severe mental retardation is often a feature, and recurrent respiratory tract infections, sometimes fatal, are common. Facial dysmorphism may include low hairline and hirsutism, saddle nose, ocular hypertelorism, micrognathia, a high-arched palate, mandibular protrusion, and exophthalmos. Clinical manifestations are usually detectable after birth or in early childhood, but late-onset cases have been reported (summary by Lupi et al., 2008).

PROLIDASE DEFICIENCY Is also known as ;hyperimidodipeptiduria

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: GARD MONDO ORPHANET MESH OMIM NCIT SCTID

More info about PROLIDASE DEFICIENCY

Medium match PEROXISOME BIOGENESIS DISORDER 1B; PBD1B

Peroxisome biogenesis disorder-1B (PBD1B) is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). Initial presentation and natural history varies, with many children presenting as newborns, whereas others do not come to attention until later. Most affected children have hypotonia, but unlike Zellweger syndrome (see PBD1A, {214100}) there is a degree of psychomotor development, and some patients achieve head control, sit unsupported, and may even walk independently. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. In PBD1B, the most common manifestations that are less apparent in ZS are sensorineural hearing loss and retinitis pigmentosa (summary by Steinberg et al., 2006). While Zellweger syndrome usually results in death in the first year of life, children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).Individuals with mutations in the PEX1 gene have cells of complementation group 1 (CG1, equivalent to CGE). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Peroxisome Biogenesis Disorder NALD/IRDThe phenotypic spectrum of NALD/IRD peroxisome biogenesis disorders can be caused by mutation in members of the peroxin (PEX) gene family. The PEX genes encode proteins essential for the assembly of functional peroxisomes (summary by Distel et al., 1996). PBD1B is caused by mutation in the PEX1 gene on chromosome 7q21; PBD2B (OMIM ) is caused by mutation in the PEX5 gene (OMIM ) on chromosome 12p13.3; PBD3B (OMIM ) is caused by mutation in the PEX12 gene (OMIM ) on chromosome 17; PBD4B (OMIM ) is caused by mutation in the PEX6 gene (OMIM ) on chromosome 6p21.1; PBD5B (OMIM ) is caused by mutation in the PEX2 gene (OMIM ) on chromosome 8q21.1; PBD6B (OMIM ) is caused by mutation in the PEX10 gene (OMIM ) on chromosome 1p36.32; PBD7B (OMIM )is caused by mutation in the PEX26 gene (OMIM ) on chromosome 22q11.21; PBD8B (OMIM ) is caused by mutation in the PEX16 gene (OMIM ) on chromosome 11p11; PDB10B (OMIM ) is caused by mutation in the PEX3 gene (OMIM ) on chromosome 6q24; and PBD11B (OMIM ) is caused by mutation in the PEX13 gene (OMIM ) on chromosome 2p15.See PBD1A (OMIM ) for a phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, which is also caused by mutation in peroxin genes. The rhizomelic chondrodysplasia subtype of PBD (RCDP1, PBD9; {215100}), and a mild PBD without rhizomelia (PBD9B ), are caused by mutation in the PEX7 gene (OMIM ) on chromosome 6q23.

PEROXISOME BIOGENESIS DISORDER 1B; PBD1B Is also known as peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease), peroxisome biogenesis disorder (nald/ird), adrenoleukodystrophy, autosomal neonatal, refsum disease, infantile, infantile phytanic acid storage disease;ird

Related symptoms:

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


SOURCES: ORPHANET OMIM

More info about PEROXISOME BIOGENESIS DISORDER 1B; PBD1B

Medium match SOTOS SYNDROME 1; SOTOS1

SOTOS SYNDROME 1; SOTOS1 Is also known as sotos syndrome, cerebral gigantism, chromosome 5q35 deletion syndrome

Related symptoms:

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


SOURCES: NCIT MONDO OMIM

More info about SOTOS SYNDROME 1; SOTOS1

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Hearing impairment Prolonged neonatal jaundice Splenomegaly Ataxia Short stature Cataract Myopathy Nystagmus Growth delay Failure to thrive Sensorineural hearing impairment Muscular hypotonia Hepatosplenomegaly Absent speech Abnormal facial shape

Rare Symptoms - Less than 30% cases


Macrotia Oxycephaly Macrocephaly Carious teeth Exercise-induced myoglobinuria Brachydactyly Joint hypermobility Spasticity Autosomal dominant inheritance Small nail Hyperreflexia Rod-cone dystrophy Hemolytic anemia Neonatal hypotonia Lymphedema Convex nasal ridge Genu valgum Prominent forehead Optic atrophy Behavioral abnormality Edema Hyperbilirubinemia Dolichocephaly Downslanted palpebral fissures Hypertelorism Pica Nevus Anemia Myalgia Visual impairment Obesity Vomiting Feeding difficulties Hypertonia Postnatal growth retardation Respiratory tract infection Retinopathy Abnormality of the liver Facial palsy Hyperventilation Congenital cataract High forehead Acidosis Osteoporosis Midface retrusion Memory impairment Arrhythmia Nyctalopia Ichthyosis Tremor Hepatic fibrosis Epiphyseal stippling Impulsivity Spinal muscular atrophy Constriction of peripheral visual field Progressive muscle weakness Leukodystrophy Nephrolithiasis Anteverted nares Abnormality of the face Large fontanelles Abnormality of epiphysis morphology Esotropia Cirrhosis Renal cyst Cardiomyopathy Infantile muscular hypotonia Skeletal muscle atrophy Aplasia/Hypoplasia of the skin Oculomotor nerve palsy Skin ulcer Low anterior hairline Generalized hirsutism Bilateral single transverse palmar creases Abnormal lung morphology Inflammatory abnormality of the skin Abnormality of the fingernails Reduced bone mineral density Systemic lupus erythematosus Osteomyelitis Psoriasiform dermatitis Abnormality of the immune system Abnormality of the hip bone Elevated erythrocyte sedimentation rate Polar cataract Diffuse telangiectasia Wide nasal bridge Peripheral neuropathy Epicanthus Biliary tract abnormality Recurrent cystitis Crusting erythematous dermatitis Facial hirsutism Petechiae Poliosis Abnormality of the middle ear White forelock Chronic lung disease Myelitis Hypoplasia of the zygomatic bone Severe hearing impairment Very long chain fatty acid accumulation Hypocholesterolemia Agenesis of permanent teeth Overgrowth Abnormal vertebral morphology Accelerated skeletal maturation Pointed chin Abnormal dermatoglyphics Cutis laxa Reduced number of teeth Redundant skin Precocious puberty Large hands Hamartoma Nephroblastoma Partial agenesis of the corpus callosum Neuroblastoma Long foot Hypoplasia of dental enamel Hamartomatous polyposis Small cell lung carcinoma Gray matter heterotopias Sacrococcygeal teratoma Expressive language delay Abnormal glucose tolerance Hyperplasia of the maxilla Cavum septum pellucidum Enlarged cisterna magna Overbite Teratoma Advanced eruption of teeth Periventricular leukomalacia Poor coordination High anterior hairline Heterotopia Tall stature Abnormality of retinal pigmentation Patent ductus arteriosus Hyperoxaluria Progressive spinal muscular atrophy Elevated levels of phytanic acid Renal atrophy Scoliosis Strabismus Cryptorchidism Neoplasm High palate Frontal bossing Ventriculomegaly Ventricular septal defect Atrial septal defect Abnormality of cardiovascular system morphology Mandibular prognathia Otitis media Abnormality of the kidney Apraxia Renal agenesis Vesicoureteral reflux Hypodontia High, narrow palate Hypermetropia Carcinoma Coarse facial features Sporadic Joint laxity Aggressive behavior Conductive hearing impairment Pes planus Abnormal heart morphology Sinusitis Thin skin Asthma Thoracolumbar kyphoscoliosis Cyanosis Hyperextensible skin Increased body weight Hypopituitarism Thoracic kyphosis Panhypopituitarism Pituitary hypothyroidism Adrenocorticotropic hormone deficiency Gonadotropin deficiency Anterior pituitary hypoplasia Lumbar kyphosis Pituitary dwarfism Prolactin deficiency Abnormal anterior horn cell morphology Hypothalamic luteinizing hormone-releasing hormone deficiency Growth hormone deficiency Encephalocele Microcephaly Optic disc pallor Pigmentary retinopathy Abnormality of eye movement Abnormality of the eye Gait ataxia Infantile onset Hydrocephalus Impairment of galactose metabolism Spastic paraplegia Galactosuria Paraplegia Delayed myelination Oculomotor apraxia Cephalocele Hypergalactosemia Atrial flutter Autistic behavior Lethargy Hepatic steatosis Generalized muscle weakness Sudden cardiac death Hyperammonemia EMG: myopathic abnormalities Cardiac arrest Tachypnea Muscle stiffness Prolonged QT interval Fatigable weakness Decreased plasma carnitine Hypothermia Dicarboxylic aciduria Molar tooth sign on MRI Short neck Hyperlordosis Skeletal dysplasia Severe short stature Micropenis Kyphosis Abnormality of the skeletal system Occipital encephalocele Nonketotic hypoglycemia Mild expressive language delay Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Elevated creatine kinase after exercise Hepatocellular necrosis Exercise-induced rhabdomyolysis Undetectable electroretinogram Inability to walk Hyperkalemia Hepatitis Hyperkeratosis Micrognathia Ptosis Weight loss Milia Depressed nasal bridge Intellectual disability, severe Short nose Intellectual disability, mild Abnormality of metabolism/homeostasis Thrombocytopenia Recurrent respiratory infections Recurrent infections Erythema Kernicterus Proptosis Recurrent myoglobinuria Eczema Hypertrophic cardiomyopathy Cutaneous photosensitivity Depressed nasal ridge Recurrent pneumonia Low posterior hairline Neonatal hyperbilirubinemia Hirsutism Skin rash Palmoplantar keratoderma Arachnodactyly Dry skin Papule Unconjugated hyperbilirubinemia Pruritus Nausea and vomiting Exercise-induced muscle cramps Broad neck Visual loss Conjugated hyperbilirubinemia Hemoglobinuria Zonular cataract Hypoglycorrhachia Motor delay Delayed gross motor development Aminoaciduria Tics Renal insufficiency Fatigue Encephalopathy X-linked recessive inheritance Aciduria Cerebral cortical atrophy Mental deterioration Increased muscle fatiguability Emotional lability Decreased mean corpuscular volume Myoglobinuria Progressive encephalopathy Rhabdomyolysis Acute kidney injury Reticulocytosis Exercise intolerance Muscular dystrophy Purpura Spastic tetraparesis Tetraparesis Migraine Muscle cramps Retinal dystrophy Abnormality of the cerebral ventricles



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