Delayed speech and language development, and Hypopigmentation of the skin

Diseases related with Delayed speech and language development and Hypopigmentation of the skin

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


Top matches:

Low match AL-RAQAD SYNDROME; ARS

Related symptoms:

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


SOURCES: UMLS OMIM MONDO

More info about AL-RAQAD SYNDROME; ARS

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2

The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2 Is also known as cerebellar hypoplasia, nonprogressive norman type, cerebellar granular cell hypoplasia and mental retardation, congenital, cerebelloparenchymal disorder iii;cpd3, cpd iii;autosomal recessive spinocerebellar ataxia type 2; scar2

Related symptoms:

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


SOURCES: ORPHANET SCTID MONDO UMLS MESH DOID OMIM GARD

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN

X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN Is also known as mental retardation, x-linked, syndromic 30;mrxs30;x-linked intellectual disability-nail dystrophy-seizures syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET UMLS OMIM MONDO DOID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN

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Other less relevant matches:

Low match GILLESPIE SYNDROME; GLSP

Gillespie syndrome is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).

GILLESPIE SYNDROME; GLSP Is also known as aniridia, cerebellar ataxia, and mental retardation;gillespie syndrome

Related symptoms:

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


SOURCES: OMIM MONDO ORPHANET UMLS MESH GARD SCTID

More info about GILLESPIE SYNDROME; GLSP

Low match ANGELMAN SYNDROME; AS

Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

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


SOURCES: SCTID ICD10 ORPHANET OMIM UMLS

More info about ANGELMAN SYNDROME; AS

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 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

Low match ATRICHIA WITH PAPULAR LESIONS; APL

Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.

ATRICHIA WITH PAPULAR LESIONS; APL Is also known as papular atrichia;papular atrichia

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Pica
  • Milia
  • Alopecia


SOURCES: DOID MONDO OMIM SCTID UMLS MESH ORPHANET

More info about ATRICHIA WITH PAPULAR LESIONS; APL

Low match FOVEAL HYPOPLASIA 2; FVH2

Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia (OMIM ), microphthalmia (see {251600}), albinism (see {203100}), or achromatopsia (see {216900}). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014).For a discussion of genetic heterogeneity of foveal hypoplasia, see FVH1 (OMIM ).

FOVEAL HYPOPLASIA 2; FVH2 Is also known as foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis, foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism;fhonda;fhonda syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Pica
  • Nystagmus
  • Strabismus


SOURCES: MONDO ORPHANET OMIM UMLS MESH

More info about FOVEAL HYPOPLASIA 2; FVH2

Low match GALLOWAY-MOWAT SYNDROME 1; GAMOS1

Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome (summary by Vodopiutz et al., 2015). Genetic Heterogeneity of Galloway-Mowat SyndromeGAMOS2 (OMIM ) is caused by mutation in the LAGE3 gene (OMIM ) on chromosome Xq28; GAMOS3 (OMIM ) is caused by mutation in the OSGEP gene (OMIM ) on chromosome 14q11; GAMOS4 (OMIM ) is caused by mutation in the TP53RK gene (OMIM ) on chromosome 20q13; and GAMOS5 (OMIM ) is caused by mutation in the TPRKB gene (OMIM ) on chromosome 2p13.

GALLOWAY-MOWAT SYNDROME 1; GAMOS1 Is also known as microcephaly, hiatal hernia, and nephrotic syndrome, galloway syndrome, nephrosis-neuronal dysmigration syndrome, nephrosis-microcephaly syndrome, cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities;camos, spinocerebellar ataxia, autosomal recessive 5, formerly;scar5, formerly;galloway syndrome; microcephaly-hiatus hernia-nephrotic syndrome; nephrosis-neuronal dysmigration syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET UMLS SCTID MONDO

More info about GALLOWAY-MOWAT SYNDROME 1; GAMOS1

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Pica Nystagmus Muscular hypotonia Microcephaly Seizures Strabismus Wide mouth Gait ataxia Deeply set eye Abnormal facial shape Cerebellar atrophy Hearing impairment Short stature Incoordination Pes planus Cerebellar hypoplasia Hypoplasia of the corpus callosum Visual impairment Nevus Optic atrophy Cerebral cortical atrophy Neurological speech impairment Hypertelorism Feeding difficulties Myopia Encephalopathy Postnatal microcephaly Autistic behavior Astigmatism Pes cavus Sleep disturbance Sensorineural hearing impairment Scoliosis Unsteady gait Hyperreflexia Cataract

Rare Symptoms - Less than 30% cases


Dilatation Failure to thrive Echolalia Autosomal dominant inheritance Pneumonia Tremor Wide intermamillary distance Widely spaced teeth Fever Intellectual disability, severe Alopecia Vomiting Milia Retinopathy Tics Ptosis Albinism Reduced visual acuity Abnormal cerebellum morphology Abnormality of movement Happy demeanor Hypoplasia of the fovea Coloboma Muscular hypotonia of the trunk Mandibular prognathia Flat occiput Hypoplasia of the iris Cerebral atrophy Hiatus hernia Anteverted nares Self-injurious behavior Inability to walk Hypopigmented skin patches Synophrys Intellectual disability, progressive Aggressive behavior Prominent nasal bridge Hypermetropia Spasticity Low-set ears Microphthalmia Gliosis Macrotia EEG abnormality Falls Malabsorption Prominent nose Gastroesophageal reflux Dysarthria Infantile onset Growth delay Severe global developmental delay X-linked recessive inheritance Micropenis Depressed nasal bridge Macrocephaly Upslanted palpebral fissure Short neck Constipation Behavioral abnormality Midface retrusion Dystonia Small cerebral cortex Sparse eyebrow Large beaked nose Alopecia totalis Failure of eruption of permanent teeth Square face Hypotrichosis Intermittent hyperventilation Rickets Narrow foot Prostatitis Triangular nasal tip Broad fingertip Papule Hyperhidrosis Cryptorchidism Enteroviral hepatitis Enteroviral dermatomyositis syndrome Lymph node hypoplasia Abnormality of the tonsils Overhanging nasal tip Abnormal pattern of respiration Breathing dysregulation Intellectual disability, moderate Thickened helices Convex nasal ridge Macule Truncal ataxia Cyanosis Aganglionic megacolon Open mouth Narrow forehead Abdominal distention Specific learning disability Full cheeks Abnormal palate morphology Thick vermilion border Small hand Single transverse palmar crease Tapered finger Thick eyebrow Apnea Short philtrum Postnatal growth retardation Abnormality of the pinna Aplasia/Hypoplasia of the corpus callosum Alopecia universalis Pes valgus Protruding ear Hyperventilation Abnormality of the helix Clubbing of fingers Esophagitis Acrocyanosis Wide nasal bridge Clinodactyly Coarse facial features Misalignment of teeth Hodgkin lymphoma Coarse hair Abnormal autonomic nervous system physiology Aphasia Dysphasia Clubbing Supernumerary nipple Cupped ear Sleep apnea Mutism Finger clinodactyly Short metatarsal Talipes equinovarus Hypopigmented streaks Dandy-Walker malformation Chronic kidney disease Hypoplasia of the brainstem Hypoalbuminemia Hemiplegia/hemiparesis Adducted thumb Opacification of the corneal stroma Heterotopia Joint contracture of the hand Small nail Abnormality of neuronal migration Hypsarrhythmia Pachygyria Spastic tetraplegia Sloping forehead Hypotelorism Renal hypoplasia Oligohydramnios Brain atrophy Glomerulosclerosis Focal segmental glomerulosclerosis Tetraplegia Hand clenching Encephalomalacia Hypoplasia of the ear cartilage Albuminuria Congenital nephrotic syndrome Abnormality of the intervertebral disk Axial dystonia Narrow nasal ridge Diffuse mesangial sclerosis Spastic ataxia Abnormality of immune system physiology Mild microcephaly Aqueductal stenosis Tubular atrophy Diffuse cerebral atrophy Adrenal hypoplasia Congenital hypothyroidism Slender finger Proportionate short stature Abnormal renal morphology Delayed myelination Hematuria Abnormality of the sweat gland Moderate hypermetropia Intrauterine growth retardation High palate Epicanthus Cognitive impairment Micrognathia Inferior chorioretinal coloboma Foveal hyperpigmentation Horizontal pendular nystagmus Alternating esotropia Septic arthritis Axenfeld anomaly Anterior segment developmental abnormality Pendular nystagmus Posterior embryotoxon Retinal coloboma Chorioretinal coloboma High myopia Esotropia Generalized papillary lesions Ventriculomegaly Hydrocephalus Premature birth Small for gestational age Chorea Limitation of joint mobility Nephropathy Arachnodactyly Abnormality of the foot Talipes Abnormality of the kidney Pruritus Irritability Hypertonia Camptodactyly Nephrotic syndrome Camptodactyly of finger Proteinuria Hypothyroidism Hernia Arrhythmia Abnormality of the dentition Renal insufficiency Epididymitis Myopathy Recurrent cutaneous abscess formation Hypointensity of cerebral white matter on MRI Pulmonic stenosis Facial asymmetry Corneal opacity Congenital cataract Intellectual disability, mild Downslanted palpebral fissures Regional abnormality of skin Almond-shaped palpebral fissure Apraxia Abnormal hair whorl Spotty hypopigmentation Broad face Myeloid leukemia Broad neck Acute myeloid leukemia Broad hallux Increased body weight High, narrow palate Low anterior hairline Generalized hirsutism Scanning speech Obesity Inguinal hernia Kyphosis Frontal cortical atrophy Craniofacial asymmetry Mydriasis Abnormality of the pulmonary artery Hyperconvex nail Involuntary movements Broad distal phalanx of finger Speech apraxia Aniridia Hearing abnormality Slurred speech Bilateral ptosis Mask-like facies Postural tremor Prominent supraorbital ridges Low posterior hairline Hyperactivity Sandal gap Intention tremor Progressive cerebellar ataxia Dysmetria Ranula Hyporeflexia Gait disturbance Hyperplasia of the maxilla Flat face Dysdiadochokinesis Abnormal cardiac septum morphology Joint laxity Thin upper lip vermilion Narrow mouth Congenital onset Short nose Atrial septal defect Brachydactyly Limb ataxia Hyperactive deep tendon reflexes Nail dysplasia Malar flattening Poor speech Hirsutism Leukemia Short foot Downturned corners of mouth Dry skin Thin vermilion border Nail dystrophy Edema Ocular albinism Nonprogressive cerebellar ataxia Dilated fourth ventricle White hair Generalized hypopigmentation Saccadic smooth pursuit Enlarged cisterna magna Abnormality of the retinal vasculature Nonprogressive Brachycephaly Autism Pyoderma Neutropenia Skin ulcer Sinusitis Hepatitis Otitis media Recurrent pneumonia Decreased antibody level in blood Sepsis Autoimmunity Recurrent urinary tract infections Skin rash Weight loss Arthritis Dementia Rod-cone dystrophy Recurrent infections Immunodeficiency Depressivity Chronic diarrhea Lymphopenia Fatigue Rheumatoid arthritis Thymoma Abnormality of the lymphatic system Cor pulmonale Myelopathy Agammaglobulinemia Glossoptosis Myositis Chronic otitis media Meningitis Osteomyelitis Cellulitis Encephalitis Hypocalcemia Conjunctivitis Telangiectasia Abnormal lung morphology Recurrent bacterial infections Thrombocytopenia Diarrhea Feeding difficulties in infancy Status epilepticus Broad-based gait Drooling Aspiration Cerebral palsy Overgrowth Clumsiness Exotropia Abnormality of the face Atonic seizures Generalized seizures Intellectual disability, profound Focal seizures Macroglossia Infertility Hypoplasia of the maxilla Anxiety Sporadic Polyphagia Keratoconus Neoplasm Moderate global developmental delay Anemia Anisometropia Paroxysmal bursts of laughter Sleep-wake cycle disturbance Tongue thrusting Large foramen magnum Inappropriate laughter Limb tremor Profound global developmental delay Protruding tongue Progressive gait ataxia Short attention span Epileptic spasms Fair hair Hyperkinesis Blue irides Drowsiness Overweight Thyroid dysgenesis


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