Delayed speech and language development, and Eczema

Diseases related with Delayed speech and language development and Eczema

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly


SOURCES: UMLS ORPHANET OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

Related symptoms:

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


SOURCES: UMLS MONDO OMIM MESH

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48

MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48 Is also known as ;

Related symptoms:

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


SOURCES: MONDO UMLS DOID ORPHANET OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48

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Other less relevant matches:

Medium 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 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 NICOLAIDES-BARAITSER SYNDROME; NCBRS

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

NICOLAIDES-BARAITSER SYNDROME; NCBRS Is also known as sparse hair and mental retardation, nbs;nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: SCTID ORPHANET MESH OMIM MONDO GARD UMLS

More info about NICOLAIDES-BARAITSER SYNDROME; NCBRS

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33

X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 Is also known as ;

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: UMLS ORPHANET OMIM MONDO

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33

Medium match TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as trichothiodystrophy, photosensitive;ttdp, ichthyosiform erythroderma with hair abnormality and mental and growth retardation, tay syndrome, trichothiodystrophy with congenital ichthyosis;ichthyosis, congenital, with trichothiodystrophy, pibids syndrome

Related symptoms:

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


SOURCES: OMIM MONDO ORPHANET

More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

Low match KOOLEN-DE VRIES SYNDROME; KDVS

Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).

KOOLEN-DE VRIES SYNDROME; KDVS Is also known as chromosome 17q21.31 deletion syndrome, microdeletion 17q21.31 syndrome;del(17)(q21.31); monosomy 17q21.31

Related symptoms:

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


SOURCES: ORPHANET OMIM

More info about KOOLEN-DE VRIES SYNDROME; KDVS

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2

Multiple congenital anomalies-hypotonia-seizures syndrome-2 is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (OMIM ); for a discussion of genetic heterogeneity of EIEE, see {308350}; and for a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2 Is also known as epileptic encephalopathy, early infantile, 20;eiee20, glycosylphosphatidylinositol biosynthesis defect 4;gpibd4;mcahs type 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: DOID UMLS GARD OMIM ORPHANET MONDO

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Hypertelorism Intrauterine growth retardation Autosomal dominant inheritance Small for gestational age Hearing impairment Growth delay Anteverted nares Pica Sparse hair Strabismus Long philtrum Obesity Failure to thrive Underdeveloped nasal alae Cerebellar hypoplasia Intellectual disability, severe Overfolded helix Widely spaced teeth Dry skin Micrognathia Long face Downslanted palpebral fissures High, narrow palate Postnatal growth retardation Blepharophimosis Short nose Absent speech Prominent nasal bridge Hypospadias Synophrys Recurrent infections Depressed nasal bridge Feeding difficulties Bulbous nose Abnormal facial shape Asthma Hypotelorism Protruding ear Cryptorchidism Macrotia Scoliosis Autosomal recessive inheritance Ventriculomegaly Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases


Vesicoureteral reflux Cataract Inflammatory abnormality of the skin Hip dysplasia Low anterior hairline Cutaneous photosensitivity Hirsutism Proptosis Broad chin Hepatomegaly Anemia Ptosis Short metatarsal Accelerated skeletal maturation Short phalanx of finger Short metacarpal Congenital onset Arachnodactyly Everted lower lip vermilion Tics Epileptic spasms Joint hypermobility Retrognathia Ichthyosis X-linked recessive inheritance Pectus excavatum Kyphosis Cerebellar atrophy Small nail Sacral dimple Pneumonia Flexion contracture Short neck Nystagmus Abnormality of hair texture Abnormality of cardiovascular system morphology Status epilepticus Cleft palate High palate Wide intermamillary distance Spastic diplegia Poor speech Atrial septal defect Wide nose Abnormality of eye movement Upslanted palpebral fissure Abnormality of the genital system Wide mouth Coarse facial features Alopecia Broad nasal tip Prominent forehead Malar flattening Autism Spasticity Cerebellar vermis hypoplasia Thickened helices Failure to thrive in infancy Macrocephaly Hyperreflexia Feeding difficulties in infancy Thick lower lip vermilion Muscular hypotonia of the trunk Autistic behavior Open mouth Deeply set eye Highly arched eyebrow Abnormality of the dentition Abnormality of the pinna Hyperactivity Thick eyebrow Oxycephaly Motor delay Epicanthus Cerebral cortical atrophy Phimosis Brachydactyly Visual impairment Hypertension Smooth philtrum Ataxia Pili torti Congenital ichthyosiform erythroderma Fragile nails Alopecia of scalp Keratoconjunctivitis sicca High anterior hairline Seborrheic dermatitis Woolly hair Progeroid facial appearance Respiratory arrest Cardiorespiratory arrest Congenital nonbullous ichthyosiform erythroderma Pierre-Robin sequence Broad palm Scaling skin Large for gestational age Absent septum pellucidum Infantile spasms Central hypotonia Ventricular septal defect Trichorrhexis nodosa Nevus Lack of subcutaneous fatty tissue Breech presentation Jerky ocular pursuit movements Titubation Corneal neovascularization IgG deficiency Squamous cell carcinoma Hyperactive deep tendon reflexes Babinski sign Microcornea Malabsorption Nail dystrophy Alveolar ridge overgrowth Photophobia Olfactory lobe agenesis Hypogonadism Areflexia Triangular mouth Microphthalmia Birth length greater than 97th percentile Cognitive impairment Abnormality of the septum pellucidum Thickened ears Talipes cavus equinovarus Prominent protruding coccyx Decreased antibody level in blood Nail dysplasia Nuclear cataract Brittle hair Intestinal obstruction Freckling Basal cell carcinoma Decreased fertility Erythroderma Prominent occiput Abnormality of the thorax Dysphonia Hemoglobinuria Macular degeneration Increased bone mineral density Chronic diarrhea Abnormality of the face Duplicated collecting system Micronodular cirrhosis Fine hair High forehead Deep philtrum Pes planus Posteriorly rotated ears Large fontanelles Respiratory failure Epileptic encephalopathy Generalized seizures Postnatal microcephaly Narrow mouth Micropenis Myoclonus Polyhydramnios Clonus Encephalopathy Patent ductus arteriosus Gingival overgrowth Cerebral atrophy Arrhythmia Hypotrophy of the small hand muscles Abnormality of hair pigmentation Positional foot deformity Apnea Abnormality of the eye Conspicuously happy disposition Cortical visual impairment Tall stature Microdontia Neuronal loss in central nervous system Generalized myoclonic seizures Delayed myelination Webbed neck Sepsis Hepatic failure Hypsarrhythmia Developmental regression Death in infancy Gliosis Hemolytic anemia Cirrhosis Stroke Downturned corners of mouth Short distal phalanx of finger Renal cyst Pear-shaped nose Narrow palm Conductive hearing impairment Broad forehead Scarring Focal seizures Hypermetropia Pulmonic stenosis Cleft upper lip Cleft lip Abnormal cardiac septum morphology Hip dislocation Nephrotic syndrome Narrow palate Sporadic Joint laxity Elevated alkaline phosphatase Limb undergrowth Short finger Hydronephrosis Intellectual disability, moderate Redundant skin Heterotopia Bicuspid aortic valve Overgrowth Prominent metopic ridge Contiguous gene syndrome Multifocal epileptiform discharges Expressive language delay Prominent fingertip pads Anteverted ears Spondylolisthesis Glioma Slender finger Long fingers Nasal speech Cortical dysplasia Vertebral fusion Sparse eyebrow Multicystic kidney dysplasia Abnormality of the urinary system Elbow dislocation Aortic aneurysm Pyloric stenosis Prominent coccyx Dysphasia Caesarian section Chronic rhinitis Thrombocytopenia Abnormality of metabolism/homeostasis Intellectual disability, mild Edema Splenomegaly Milia Thyroid hormone receptor defect Red hair Erythema Blue irides Fair hair Rhinitis Spinal canal stenosis Mild short stature Congenital hypothyroidism Cone-shaped epiphysis Increased intracranial pressure Recurrent respiratory infections Hyperkeratosis Small hand Depressed nasal ridge Bilateral single transverse palmar creases Generalized hirsutism Skin ulcer Lymphedema Sinusitis Abnormality of retinal pigmentation Hepatitis Thin skin Recurrent pneumonia Hepatosplenomegaly Low posterior hairline Convex nasal ridge Palmoplantar keratoderma Papule Carious teeth Genu valgum Pruritus Skin rash Type I diabetes mellitus Round face Abnormality of the fingernails Hypertonia Narrow face Prominent nose Esotropia Short philtrum Telecanthus Pes cavus Elevated serum creatine phosphokinase Wide nasal bridge Short chin Dysarthria Myopathy Small earlobe Hallux valgus Narrow forehead Febrile seizures Severe global developmental delay Gait disturbance Progressive microcephaly Brisk reflexes Hypoplasia of the maxilla Cerebellar dysplasia Acrania Hypothyroidism Mandibular prognathia Diabetes mellitus Midface retrusion Abnormality of the skeletal system Dysgenesis of the cerebellar vermis Dilated fourth ventricle Dilation of lateral ventricles Achilles tendon contracture Enlarged cisterna magna Long palpebral fissure Stereotypy Polymicrogyria Behavioral abnormality Muscular hypotonia Sensorineural hearing impairment Thick upper lip vermilion Abnormal lung morphology Reduced bone mineral density Sleep-wake cycle disturbance Eclabion Tremor Myopia Low-set ears Prominent proximal interphalangeal joints Unilateral narrow palpebral fissure Prominent interphalangeal joints Curly eyelashes Clubbing of toes Dystonia Excessive wrinkled skin Thick nasal alae Broad distal phalanx of finger Wide nasal base Abnormality of the testis Broad philtrum Abnormal hair pattern Narrow nasal bridge Dysphagia Constipation Echolalia Delayed gross motor development Short digit Toenail dysplasia Nasolacrimal duct obstruction Gait imbalance Oral-pharyngeal dysphagia Depressed nasal tip Aplasia cutis congenita Chronic otitis media Flat occiput Osteopenia Prominent supraorbital ridges Reduced tendon reflexes Pointed chin Microretrognathia Attention deficit hyperactivity disorder Anxiety Thin upper lip vermilion Gastroesophageal reflux Abnormality of finger Protruding tongue Systemic lupus erythematosus Myelitis Recurrent cystitis Crusting erythematous dermatitis Diffuse telangiectasia Facial hirsutism Poliosis Abnormality of the middle ear White forelock Chronic lung disease Hypoplasia of the zygomatic bone Hernia Petechiae Prolonged neonatal jaundice Elevated erythrocyte sedimentation rate Aplasia/Hypoplasia of the skin Abnormality of the hip bone Abnormality of the immune system Psoriasiform dermatitis Osteomyelitis Delayed skeletal maturation Brachycephaly Absent eyebrow Long eyelashes Aphasia Mutism Narrow palpebral fissure Drooling Abnormality of the metacarpal bones Sandal gap Absence seizures Joint dislocation Hypotrichosis Severe short stature Abnormality of epiphysis morphology Sparse scalp hair Short palpebral fissure Specific learning disability Triangular face Short palm Thin vermilion border Aggressive behavior Abnormality of the pons


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