Delayed speech and language development, and Telangiectasia

Diseases related with Delayed speech and language development and Telangiectasia

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


Top matches:

Low 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

Low match AGAMMAGLOBULINEMIA, X-LINKED; XLA

X-linked agammaglobulinemia is an immunodeficiency characterized by failure to produce mature B lymphocytes and associated with a failure of Ig heavy chain rearrangement. The defect in this disorder resides in BTK, also known as BPK or ATK, a key regulator in B-cell development (Rawlings and Witte, 1994). The X-linked form accounts for approximately 85 to 90% of cases of the disorder. Also see {300310}. The remaining 15% of cases constitute a heterogeneous group of autosomal disorders (Lopez Granados et al., 2002; Ferrari et al., 2007). See agammaglobulinemia-1 (AGM1 ) for a discussion of genetic heterogeneity of the autosomal forms of agammaglobulinemia.

AGAMMAGLOBULINEMIA, X-LINKED; XLA Is also known as bruton-type agammaglobulinemia, agammaglobulinemia, x-linked, type 1;agmx1, immunodeficiency 1;imd1;btk-deficiency; bruton type agammaglobulinemia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: SCTID OMIM ORPHANET

More info about AGAMMAGLOBULINEMIA, X-LINKED; XLA

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E

Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin.For a general discussion of CDGs, see CDG Ia (OMIM ) and CDG Ib (OMIM ).

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E Is also known as cdg ie;cdgie;cdg syndrome type ie; cdg-ie; cdg1e; carbohydrate deficient glycoprotein syndrome type ie; congenital disorder of glycosylation type 1e; congenital disorder of glycosylation type ie; dol-p-mannosyltransferase deficiency

Related symptoms:

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


SOURCES: NCIT SCTID ORPHANET MONDO GARD UMLS OMIM MESH

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E

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Other less relevant matches:

Low match BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS Is also known as bannayan-zonana syndrome;bzs, riley-smith syndrome, ruvalcaba-myhre-smith syndrome;rmss, macrocephaly, pseudopapilledema, and multiple hemangiomata, macrocephaly, multiple lipomas, and hemangiomata;brrs; myhre-riley-smith syndrome

Related symptoms:

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


SOURCES: DOID GARD NCIT MONDO SCTID ORPHANET OMIM ICD10

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS

Low match CRANIOSYNOSTOSIS 4; CRS4

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-4 includes lambdoid, sagittal, metopic, coronal, and multisuture forms.For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge
  • Delayed speech and language development


SOURCES: MONDO UMLS OMIM

More info about CRANIOSYNOSTOSIS 4; CRS4

Low match ATAXIA-TELANGIECTASIA-LIKE DISORDER 2; ATLD2

Ataxia-telangiectasia-like disorder-2 is an autosomal recessive syndrome resulting from defects in DNA excision repair. Affected individuals have a neurodegenerative phenotype characterized by developmental delay, ataxia, and sensorineural hearing loss. Other features include short stature, cutaneous and ocular telangiectasia, and photosensitivity (summary by Baple et al., 2014).For a discussion of genetic heterogeneity of ATLD, see ATLD1 (OMIM ).

ATAXIA-TELANGIECTASIA-LIKE DISORDER 2; ATLD2 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: UMLS MONDO ORPHANET OMIM

More info about ATAXIA-TELANGIECTASIA-LIKE DISORDER 2; ATLD2

Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as naga deficiency type 1; schindler disease type 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

Low match SOTOS SYNDROME 2; SOTOS2

Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies.

SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome;sotos syndrome 2

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET UMLS OMIM MONDO

More info about SOTOS SYNDROME 2; SOTOS2

Low match IMMUNODEFICIENCY 49; IMD49

IMMUNODEFICIENCY 49; IMD49 Is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities, scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities

Related symptoms:

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


SOURCES: UMLS MONDO OMIM

More info about IMMUNODEFICIENCY 49; IMD49

Low match GM1-GANGLIOSIDOSIS, TYPE III

GM1-gangliosidosis type III is an autosomal recessive lysosomal storage disorder characterized by neurodegeneration and mild skeletal changes. Age at onset ranges from 3 to 30 years. The disorder is less severe than GM1-gangliosidosis types I and II (OMIM ). Type III shows extreme clinical variability, with some patients having only focal neurologic signs, such as dystonia, and others having more severe involvement with extrapyramidal signs and mental retardation. GLB1 enzymatic activity usually ranges from approximately 4 to 10% of control values (Suzuki et al., 2001).

GM1-GANGLIOSIDOSIS, TYPE III Is also known as gangliosidosis, generalized gm1, adult type, gangliosidosis, generalized gm1, chronic type, gangliosidosis, generalized gm1, type iii, gangliosidosis, generalized gm1, type 3;adult-onset gm1 gangliosidosis

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis


SOURCES: OMIM GARD UMLS SCTID ORPHANET MONDO

More info about GM1-GANGLIOSIDOSIS, TYPE III

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% 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 Telangiectasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Strabismus Short stature Autosomal dominant inheritance Downslanted palpebral fissures Ataxia Hearing impairment Micrognathia Hepatomegaly Prominent forehead Motor delay Muscular hypotonia Lymphedema Immunodeficiency Dilatation Oxycephaly Depressed nasal bridge Nystagmus Scoliosis Muscle weakness Edema Macrocephaly Myopathy Short nose Intellectual disability, mild Recurrent infections

Rare Symptoms - Less than 30% cases


Mental deterioration Failure to thrive Dysarthria Pes cavus Sensorineural hearing impairment Spasticity Myoclonus Lymphopenia Generalized amyotrophy Retinopathy Acrania Neoplasm Nevus Optic atrophy Microcephaly Angiokeratoma Anteverted nares Frontal bossing Skeletal muscle atrophy Flat occiput Hemangioma Cortical visual impairment Intention tremor Autism Cutis marmorata Abnormal pyramidal sign Absent speech Progressive Cerebellar atrophy Tremor Intellectual disability, severe Pectus excavatum Flexion contracture Small hand Overgrowth Inflammatory abnormality of the skin Anemia Abnormal lung morphology Skin rash Skin ulcer Proptosis Hyperkeratosis Erythema Sinusitis Thrombocytopenia Osteomyelitis Psoriasiform dermatitis Hepatitis Cutaneous photosensitivity Splenomegaly Recurrent pneumonia Hirsutism Milia Abnormal facial shape Ptosis Facial grimacing Lymphangioma Subcutaneous hemorrhage Hamartomatous polyposis Neoplasm of the breast Loss of speech Neoplasm of the adrenal cortex Visceral angiomatosis Long penis Venous malformation Abnormal large intestine morphology Intestinal polyposis Foam cells Abnormally prominent line of Schwalbe Progressive macrocephaly Intestinal polyp Macrodactyly Flared iliac wings Birth length greater than 97th percentile Cutaneous angiolipomas Abdominal wall muscle weakness Uterine neoplasm Visceromegaly Diffuse cerebral atrophy Intussusception Cutis marmorata telangiectatica congenita Thick corpus callosum Pseudopapilledema Thyroid carcinoma Natal tooth Cavernous hemangioma Intracranial hemorrhage Delayed gross motor development Decreased beta-galactosidase activity Incoordination Hamartoma Cerebral hemorrhage Lipoma Cafe-au-lait spot Multiple lipomas Aortic aneurysm Drooling Cachexia Acanthosis nigricans Narrow palate Amblyopia Macule Supernumerary nipple Anterior beaking of lumbar vertebrae Decreased plasma carnitine Hematochezia Abnormality of the optic nerve Angina pectoris Meningioma Midface retrusion Hashimoto thyroiditis Thyroiditis Capillary hemangioma Stuttering Scaphocephaly Papilledema Arteriovenous malformation Megalencephaly Hypoplastic acetabulae Multiple cafe-au-lait spots Irregular hyperpigmentation Malar flattening Encephalocele Generalized dystonia Narrow mouth Everted lower lip vermilion Long face Hypermetropia Anxiety High forehead Mandibular prognathia Clonus Narrow face Ventriculomegaly Abnormality of brainstem morphology Telangiectasia of the skin Platyspondyly Hemiplegia/hemiparesis Aplasia/Hypoplasia of the cerebellum Abnormality of extrapyramidal motor function Astigmatism Accelerated skeletal maturation Parkinsonism Pulmonary artery stenosis Short palpebral fissure Spastic tetraplegia Tetraplegia Umbilical hernia Agenesis of corpus callosum Congenital onset Hernia Severe combined immunodeficiency Coxa valga Cognitive impairment Hypertonia Kyphosis Dystonia Rigidity Advanced eruption of teeth Long fingers Vertigo Paresthesia Progressive spasticity Plagiocephaly Cephalocele Athetosis Abnormality of the face Increased intracranial pressure Opacification of the corneal stroma Spastic tetraparesis Optic nerve hypoplasia Slurred speech Anterior plagiocephaly Microretrognathia Abnormality of blood and blood-forming tissues Hyperactive deep tendon reflexes Wormian bones Craniosynostosis Telecanthus Retrognathia Arnold-Chiari type I malformation Lambdoidal craniosynostosis Sensory neuropathy Unsteady gait Developmental regression Hypertrophic cardiomyopathy Peripheral neuropathy Chorea Exotropia Progressive muscle weakness Neurodegeneration Urinary incontinence Craniofacial dysostosis Photophobia Tetraparesis Dysphagia Posterior plagiocephaly Pansynostosis Prominent scalp veins Ectopic posterior pituitary Conjunctival telangiectasia Deep venous thrombosis Subcutaneous nodule X-linked recessive inheritance Autoimmunity Weight loss Arthritis Dementia Alopecia Rod-cone dystrophy Depressivity Neutropenia Pneumonia Encephalopathy Fatigue Diarrhea Fever Tics Recurrent cystitis Malabsorption Sepsis Diffuse telangiectasia Encephalitis Myelopathy Agammaglobulinemia Glossoptosis Myositis Rheumatoid arthritis Chronic otitis media Cellulitis Hypopigmented skin patches Decreased antibody level in blood Hypocalcemia Conjunctivitis Recurrent bacterial infections Meningitis Recurrent urinary tract infections Chronic diarrhea Otitis media Crusting erythematous dermatitis Facial hirsutism Abnormality of the lymphatic system Papule Depressed nasal ridge Low posterior hairline Convex nasal ridge Eczema Palmoplantar keratoderma Arachnodactyly Dry skin Carious teeth Asthma Genu valgum Pruritus Hepatosplenomegaly Recurrent respiratory infections Obesity Abnormality of metabolism/homeostasis Visual impairment Thin skin Abnormality of retinal pigmentation Poliosis Elevated erythrocyte sedimentation rate Abnormality of the middle ear White forelock Chronic lung disease Myelitis Hypoplasia of the zygomatic bone Petechiae Prolonged neonatal jaundice Aplasia/Hypoplasia of the skin Low anterior hairline Abnormality of the hip bone Abnormality of the immune system Systemic lupus erythematosus Reduced bone mineral density Abnormality of the fingernails Bilateral single transverse palmar creases Generalized hirsutism Cor pulmonale Thymoma Tall stature Pontocerebellar atrophy Reduced protein S activity Reduced protein C activity Reduced antithrombin III activity Abnormal macular morphology Abnormal myelination Type I transferrin isoform profile Prolonged partial thromboplastin time Pain Upper limb undergrowth Ankle contracture Weak cry Lower limb hyperreflexia Increased variability in muscle fiber diameter Poor suck Trigonocephaly High palate Atrial septal defect Decreased liver function Neurological speech impairment Broad thumb Lymphoma Juvenile onset Wide nose Joint hypermobility Joint hyperflexibility Dolichocephaly Carcinoma Long philtrum Postnatal growth retardation Hypoglycemia Proximal muscle weakness Abnormal heart morphology Macrotia Delayed skeletal maturation Abnormality of cardiovascular system morphology Venous thrombosis Abnormality of vision Pyoderma Growth delay Elevated serum creatine phosphokinase Patent ductus arteriosus Respiratory distress Cerebral atrophy Infantile onset Hypertension Feeding difficulties Enteroviral hepatitis Elevated hepatic transaminase Enteroviral dermatomyositis syndrome Lymph node hypoplasia Abnormality of the tonsils Prostatitis Epididymitis Septic arthritis Recurrent cutaneous abscess formation Gait ataxia EEG abnormality Knee flexion contracture High, narrow palate Truncal ataxia Postnatal microcephaly Progressive neurologic deterioration Dental malocclusion Febrile seizures Nail dysplasia Delayed myelination Dysmetria Apnea Short palm Smooth philtrum Muscular dystrophy Severe global developmental delay Camptodactyly Prominent nasal bridge Abnormality of the eye Dysplasia of the femoral head



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Coloboma, related diseases and genetic alterations Macrocephaly and High myopia, related diseases and genetic alterations Sensorineural hearing impairment and Inguinal hernia, related diseases and genetic alterations Anemia and Hyperreflexia, related diseases and genetic alterations Muscular hypotonia and Hepatic fibrosis, related diseases and genetic alterations Seizures and Hypopigmentation of the skin, related diseases and genetic alterations

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