Delayed speech and language development, and Type I diabetes mellitus

Diseases related with Delayed speech and language development and Type I diabetes mellitus

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


Top matches:

High match ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2

Acrodysostosis-2 is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by Michot et al., 2012 and Lee et al., 2012).For a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS OMIM MONDO

More info about ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2

Medium match ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME; AHDS Is also known as allan-herndon syndrome, monocarboxylate transporter 8 deficiency, triiodothyronine resistance, t3 resistance, mental retardation, x-linked, with hypotonia, mental retardation and muscular atrophy;ahds; mct8 deficiency; monocarboxylate transporter 8 deficiency; x-linked intellectual disability-hypotonia syndrome

Related symptoms:

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


SOURCES: UMLS SCTID ORPHANET MONDO GARD NCIT OMIM DOID MESH

More info about ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

Medium match AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD

AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Pica
  • Failure to thrive


SOURCES: MONDO ORPHANET GARD UMLS OMIM

More info about AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD

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Other less relevant matches:

Medium match SCALP-EAR-NIPPLE SYNDROME; SENS

Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).

SCALP-EAR-NIPPLE SYNDROME; SENS Is also known as finlay-marks syndrome, sen syndrome;finlay-marks syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Pica
  • Abnormal facial shape


SOURCES: MONDO UMLS OMIM MESH SCTID ORPHANET GARD

More info about SCALP-EAR-NIPPLE SYNDROME; SENS

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16; SCAR16

Autosomal recessive spinocerebellar ataxia-16 is a progressive neurologic disorder characterized by truncal and limb ataxia resulting in gait instability. Most patients have onset in the teenage years, although earlier and later onset have been reported. Additional features may include dysarthria, nystagmus, spasticity of the lower limbs, and mild peripheral sensory neuropathy (summary by Shi et al., 2013).

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16; SCAR16 Is also known as ;scar16; spinocerebellar ataxia autosomal recessive type 16

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: MONDO UMLS OMIM ORPHANET DOID

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16; SCAR16

Medium match IMMUNODEFICIENCY 31C; IMD31C

Immunodeficiency-31C is an autosomal dominant disorder of immunologic dysregulation with highly variable manifestations. Most patients present in infancy or early childhood with chronic mucocutaneous candidiasis (CMC). Other highly variable features include recurrent bacterial, viral, fungal, and mycoplasmal infections, disseminated dimorphic fungal infections, enteropathy with villous atrophy, and autoimmune disorders, such as hypothyroidism or diabetes mellitus. A subset of patients show apparently nonimmunologic features, including osteopenia, delayed puberty, and intracranial aneurysms. Laboratory studies show increased activation of gamma-interferon (IFNG )-mediated inflammation (summary by Uzel et al., 2013 and Sampaio et al., 2013).

IMMUNODEFICIENCY 31C; IMD31C Is also known as candidiasis, familial, 7;candf7, candidiasis, familial chronic mucocutaneous, autosomal dominant;

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia


SOURCES: UMLS ORPHANET OMIM GARD MONDO

More info about IMMUNODEFICIENCY 31C; IMD31C

Medium match SHWACHMAN-DIAMOND SYNDROME; SDS

Shwachman-Diamond syndrome is a multisystem autosomal recessive disorder characterized by exocrine pancreatic dysfunction, bony metaphyseal dysostosis, and varying degrees of marrow dysfunction with cytopenias. Myelodysplastic syndrome and acute myeloid leukemia occur in up to one third of patients (summary by Dror and Freedman, 1999).For a review of Shwachman-Diamond syndrome, see Dror and Freedman (2002).

SHWACHMAN-DIAMOND SYNDROME; SDS Is also known as pancreatic insufficiency and bone marrow dysfunction, shwachman-bodian syndrome, lipomatosis of pancreas, congenital;pancreatic insufficiency and bone marrow dysfunction; sds; shwachman syndrome; shwachman-bodian-diamond syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET UMLS OMIM SCTID MONDO

More info about SHWACHMAN-DIAMOND SYNDROME; SDS

Medium match MARINESCO-SJOGREN SYNDROME; MSS

Marinesco-Sjogren syndrome is an autosomal recessive disorder characterized primarily by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. Other features include short stature, hypergonadotropic hypogonadism, and skeletal deformities due to muscle weakness. MSS is genetically distinct from congenital cataracts, facial dysmorphism, and neuropathy (CCFDN ), which is caused by mutation in the CTDP1 gene (OMIM ) on chromosome 18q23, although the 2 disorders share some overlapping features, including congenital cataracts, delayed psychomotor development, and ataxia. The major distinguishing features are the presence of peripheral neuropathy, facial dysmorphism, and microcornea in CCFDN (Lagier-Tourenne et al., 2003).

MARINESCO-SJOGREN SYNDROME; MSS Is also known as ;

Related symptoms:

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


SOURCES: ORPHANET OMIM UMLS SCTID DOID GARD MONDO

More info about MARINESCO-SJOGREN SYNDROME; MSS

Medium match EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS

Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by permanent neonatal or early infancy insulin-dependent diabetes. Epiphyseal dysplasia, osteoporosis, and growth retardation develop at a later age. Other frequent multisystem manifestations include hepatic and renal dysfunction, mental retardation, and cardiovascular abnormalities (summary by Delepine et al., 2000).

EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS Is also known as med-iddm syndrome, iddm-med syndrome, wolcott-rallison syndrome;early-onset diabetes mellitus with multiple epiphyseal dysplasia; wrs

Related symptoms:

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


SOURCES: NCIT UMLS MONDO GARD MESH SCTID DOID ORPHANET OMIM

More info about EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS

Medium match ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS; ACPHD

ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS; ACPHD Is also known as ;combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: UMLS MONDO ORPHANET OMIM

More info about ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS; ACPHD

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Type I diabetes mellitus

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Hypothyroidism Common - Between 50% and 80% cases
Diabetes mellitus Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Type I diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pica Generalized hypotonia Abnormal facial shape Intellectual disability Gait disturbance Motor delay Seizures Ataxia Epicanthus Anemia Microcephaly Scoliosis Nystagmus Muscular hypotonia Ptosis Autosomal dominant inheritance Spasticity Dysarthria Hearing impairment Delayed skeletal maturation Hepatitis Gait ataxia Diarrhea Hypertonia Cerebellar atrophy Peripheral neuropathy Failure to thrive Babinski sign Hepatomegaly Osteopenia Depressed nasal bridge Recurrent infections Abnormality of the skeletal system Brachydactyly Growth delay Eczema

Rare Symptoms - Less than 30% cases


Limb ataxia Anteverted nares Abnormality of the metaphysis Microdontia Specific learning disability Neutropenia Generalized muscle weakness Intellectual disability, mild Abnormality of the pinna Abnormal intestine morphology Autoimmunity Pectus carinatum Severe short stature Elevated hepatic transaminase Irritability Malabsorption Asthma Camptodactyly Splenomegaly Low-set ears Hypertelorism Cognitive impairment Steatorrhea Short thorax Sepsis Cerebellar hypoplasia Hypertension Myopathic facies Exocrine pancreatic insufficiency Hyperactive deep tendon reflexes Intrauterine growth retardation Hypogonadism Rigidity Renal insufficiency Neurological speech impairment Joint stiffness Cataract Protruding ear Kyphosis Hepatosplenomegaly Hyperreflexia Flexion contracture Obesity Congenital onset Mandibular prognathia Acrania Immunodeficiency Short metacarpal Tics Coxa valga Congenital cataract High palate Infantile onset Multiple lipomas Thrombocytopenia Lipoma Short metatarsal Skeletal muscle atrophy Sensorimotor neuropathy Cerebral atrophy Hyporeflexia Pes planus Proptosis Hip dislocation Upslanted palpebral fissure Abnormality of the endocrine system Intellectual disability, severe Strabismus Proximal femoral epiphysiolysis Recurrent aphthous stomatitis Enlargement of the costochondral junction Optic atrophy Areflexia Acute monocytic leukemia Persistence of hemoglobin F Nevus Myopathy Muscle weakness Recurrent viral infections Narrow sacroiliac notch Irregular ossification at anterior rib ends Paroxysmal nocturnal hemoglobinuria Myeloid leukemia Metaphyseal chondrodysplasia Metaphyseal sclerosis Proximal femoral metaphyseal irregularity Elevated serum creatine phosphokinase Aplastic anemia Anterior rib cupping Myocardial necrosis Ovoid vertebral bodies Metaphyseal dysostosis Respiratory tract infection Acute myeloid leukemia Chronic mucocutaneous candidiasis Autoimmune neutropenia Renovascular hypertension Renal artery stenosis Antiphospholipid antibody positivity B lymphocytopenia Primary hypothyroidism Immune dysregulation Enterocolitis Generalized osteoporosis Villous atrophy Carotid artery dilatation Thyroiditis Dilatation of the cerebral artery Pulmonary embolism Autoimmune thrombocytopenia Autoimmune hemolytic anemia Encephalitis Recurrent upper respiratory tract infections Patent foramen ovale Leukoencephalopathy Functional abnormality of the bladder Recurrent Aspergillus infections Neonatal respiratory distress Apraxia Myelodysplasia Metaphyseal widening Bone marrow hypocellularity Leukopenia Coxa vara Short ribs Nephrocalcinosis Recurrent bacterial infections Pancytopenia Leukemia Susceptibility to herpesvirus Ichthyosis Carious teeth Narrow chest Small for gestational age Skeletal dysplasia Respiratory distress Abnormal serum interferon-gamma level Medial calcification of large arteries Oropharyngeal squamous cell carcinoma Esophageal carcinoma Cerebral cortical atrophy Mild global developmental delay Kyphoscoliosis Irregular vertebral endplates Multiple epiphyseal dysplasia Small epiphyses Thin bony cortex Ketoacidosis Neurodevelopmental delay Renal tubular dysfunction Insulin-resistant diabetes mellitus Cone-shaped epiphyses of the phalanges of the hand Acute hepatic failure Barrel-shaped chest Overweight Hypoplasia of the odontoid process Carpal bone hypoplasia Hyperuricemia Glycosuria Abnormality of neuronal migration Hyperglycemia Spondyloepiphyseal dysplasia Preauricular pit Wormian bones Epiphyseal dysplasia Dehydration Abnormality of epiphysis morphology Blue sclerae Enlarged thorax Flattened epiphysis Nephropathy Irregular carpal bones Demyelinating peripheral neuropathy Sensory ataxia Areflexia of lower limbs Atrophy/Degeneration affecting the brainstem Decreased body weight Bilateral sensorineural hearing impairment Sensorineural hearing impairment Ivory epiphyses of the toes Intracerebral periventricular calcifications Irregular tarsal ossification Ivory epiphyses of the phalanges of the hand Abnormality of pancreas morphology Central hypothyroidism Reduced pancreatic beta cells Transient neonatal diabetes mellitus Bilateral coxa valga Chronic hepatic failure Shortening of all middle phalanges of the fingers Hip subluxation Decreased hip abduction Atlantoaxial dislocation Thoracolumbar kyphosis Lumbar kyphosis Pancreatic hypoplasia Narrow iliac wings Hepatic failure Recurrent fractures Intellectual disability, moderate Hypergonadotropic hypogonadism Centrally nucleated skeletal muscle fibers Rimmed vacuoles External genital hypoplasia Infantile muscular hypotonia Congenital muscular dystrophy Muscle stiffness Cubitus valgus Dysphonia Abnormality of the metacarpal bones Progressive muscle weakness Sandal gap Trophic changes related to pain Inflammatory abnormality of the skin Short thumb Hypertrichosis Hip dysplasia Decreased antibody level in blood Dyskinesia Microcornea Short palm Smooth philtrum Synophrys Muscular dystrophy Deeply set eye Abnormality of finger Avascular necrosis of the capital femoral epiphysis Death in infancy Acidosis Triangular face Hypermetropia Thin vermilion border Genu valgum Platyspondyly Hyperlordosis Weight loss Hypoglycemia Jaundice High forehead Abnormal heart morphology Brachycephaly Autophagic vacuoles Osteoporosis Coma Pain Abnormal aldolase level Aplasia/Hypoplasia involving the skeletal musculature Abnormal levels of creatine kinase in blood Muscle flaccidity Abnormal lactate dehydrogenase activity Abnormality of the cerebellar vermis Cerebellar cortical atrophy Metatarsus valgus Muscle fiber necrosis Purpura External ophthalmoplegia Lymphopenia Biparietal narrowing Abnormal conjugate eye movement Prominent antihelix Increased thyroid-stimulating hormone level Rotary nystagmus Hypoplasia of the musculature Delayed CNS myelination Abnormality of the neck Macroorchidism Hypoplasia of the zygomatic bone Central hypotonia Hallux valgus Underfolded superior helices Bowel incontinence Generalized amyotrophy Aphasia Poor head control Drooling CNS hypomyelination Leukodystrophy Bilateral single transverse palmar creases Intellectual disability, progressive Narrow face Stahl ear Macrocephaly Choreoathetosis Interstitial pneumonitis Microtia Coloboma Sparse hair Finger syndactyly Blepharophimosis Telecanthus Hyperhidrosis Syndactyly Abnormality of the dentition Myopia Chronic lung disease Frontal bossing Prominent occiput Short chin Relative macrocephaly Abnormal lung morphology Chronic diarrhea Dolichocephaly Respiratory failure Oxycephaly Clinodactyly Posteriorly rotated ears Inability to walk Athetosis Iris coloboma Underdeveloped nasal alae Blue irides Fair hair Rhinitis Spinal canal stenosis Mild short stature Congenital hypothyroidism Cone-shaped epiphysis Increased intracranial pressure Accelerated skeletal maturation Short phalanx of finger Small hand Chronic rhinitis Round face Hypoplasia of the maxilla Autism Hyperactivity Midface retrusion Hypospadias Malar flattening Short nose Cryptorchidism Red hair Thyroid hormone receptor defect X-linked dominant inheritance Abnormality of movement Open mouth Narrow forehead Spastic tetraplegia Urinary incontinence Tetraplegia Cerebral calcification Increased serum lactate Paraplegia Long face Abnormality of the foot Spastic paraplegia Feeding difficulties Severe global developmental delay Clonus Abnormality of the nervous system Camptodactyly of finger Neonatal hypotonia Feeding difficulties in infancy Macrotia Absent speech Pectus excavatum Dystonia Abnormality of the kidney Dry skin Bronchiectasis Horizontal nystagmus Gaze-evoked nystagmus Uveitis Ankle clonus Sensory axonal neuropathy Colitis Postural tremor Retinal atrophy Adducted thumb Oculomotor apraxia Pancreatitis Truncal ataxia Progeroid facial appearance Lower limb spasticity Memory impairment Type II diabetes mellitus Progressive cerebellar ataxia Postural instability Infertility Arachnodactyly Unsteady gait Peripheral axonal neuropathy Distal amyotrophy Hand tremor Oligomenorrhea Difficulty walking Old-aged sensorineural hearing impairment Pulmonary arterial hypertension Hemolytic anemia Delayed puberty Carcinoma Recurrent respiratory infections Dilatation Pneumonia Encephalopathy Congestive heart failure Abnormality of the sella turcica Abnormal motor evoked potentials Hypoplasia of the pons Parietal cortical atrophy Abnormal involuntary eye movements Iridocyclitis Delayed menarche Speech apraxia Impaired proprioception Saccadic smooth pursuit Ulcerative colitis Corpus callosum atrophy Head tremor Ophthalmoplegia Glaucoma Delayed eruption of teeth Recurrent urinary tract infections Aplasia cutis congenita Hypoplastic nipples 2-3 toe syndactyly Cupped ear Fibroma Cutaneous syndactyly Abnormality of the thorax Abnormality of the urinary system Narrow palpebral fissure Abnormality of the fingernails Abnormality of the nail Agenesis of permanent teeth Nephritis Hypohidrosis Abnormality of the hair Fine hair Hypotelorism Renal hypoplasia Renal agenesis Nail dysplasia Vesicoureteral reflux Abnormality of the skin Palpebral edema Eyelid coloboma Myoclonus Underdeveloped tragus Progressive Alopecia Hypoplasia of the corpus callosum Dysphagia Tremor Underdeveloped antitragus Abnormality of the scalp Duplication of renal pelvis 3-4 finger cutaneous syndactyly Bilateral camptodactyly Hypoplastic helices Abnormality of the antihelix Bilateral renal hypoplasia Pyelonephritis Subcutaneous lipoma Breast aplasia Absent nipple Small earlobe Ureteral duplication Aplasia cutis congenita of scalp Aplasia/Hypoplasia of the nipples Short columella Atrophy of the spinal cord



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