Delayed speech and language development, and Psoriasiform dermatitis

Diseases related with Delayed speech and language development and Psoriasiform dermatitis

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


Top matches:

High 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

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 VELOCARDIOFACIAL SYNDROME

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome, vcf syndrome;vcfs, shprintzen vcf syndrome

Related symptoms:

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


SOURCES: OMIM

More info about VELOCARDIOFACIAL SYNDROME

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Other less relevant matches:

Medium match DIGEORGE SYNDROME; DGS

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as chromosome 22q11.2 deletion syndrome, hypoplasia of thymus and parathyroids, third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM

More info about DIGEORGE SYNDROME; DGS

Medium match MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS; MCCPD

SC4MOL deficiency represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).

MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS; MCCPD Is also known as sc4mol deficiency;smo deficiency; sterol-c4-methyl oxidase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Microcephaly


SOURCES: UMLS ORPHANET OMIM MONDO

More info about MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS; MCCPD

Medium match DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME

DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME Is also known as david syndrome

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Fatigue
  • Alopecia
  • Nail dystrophy


SOURCES: ORPHANET

More info about DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME

Medium match NETHERTON SYNDROME; NETH

Netherton syndrome is a rare and severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Generalized scaly erythroderma is apparent at or soon after birth and usually persists. Scalp hair is sparse and brittle with a characteristic 'bamboo' shape under light microscopic examination due to invagination of the distal part of the hair shaft to its proximal part. Atopic manifestations include eczema-like rashes, atopic dermatitis, pruritus, hay fever, angioedema, urticaria, high levels of IgE in the serum, and hypereosinophilia. Life-threatening complications are frequent during the neonatal period, including hypernatremic dehydration, hypothermia, extreme weight loss, bronchopneumonia, and sepsis. During childhood, failure to thrive is common as a result of malnutrition, metabolic disorders, chronic erythroderma, persistent cutaneous infections, or enteropathy (summary by Bitoun et al., 2002).

NETHERTON SYNDROME; NETH Is also known as erythroderma, ichthyosiform, with hypotrichosis and hyper-ige, ns, netherton disease, comel-netherton syndrome;bamboo hair syndrome; comèl-netherton syndrome; ns

Related symptoms:

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


SOURCES: NCIT ORPHANET MONDO SCTID OMIM

More info about NETHERTON SYNDROME; NETH

Medium match IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10 Is also known as immunodeficiency, common variable, with central adrenal insufficiency, deficit in anterior pituitary function and variable immunodeficiency;david

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Spasticity
  • Gait disturbance
  • Dysphagia


SOURCES: OMIM UMLS

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

Medium match IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME

The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by Naiki et al., 2012).

IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME Is also known as ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia;ifap syndrome; ichthyosis follicularis-atrichia-photophobia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: UMLS OMIM ORPHANET

More info about IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME

Medium match HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME

The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC described an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by Kismet et al., 2005). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients (Cliffe et al., 2009). Bolze et al. (2012) noted that mutations in the SLC29A3 gene (OMIM ) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' Bolze et al. (2012) suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders (Avitan-Hersh et al., 2011; Colmenero et al., 2012).

HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME Is also known as histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness, hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss, h syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus;phid, histiocytosis with joint contractures and sensorineural deafness;hjcd, faisalabad histiocytosis, rosai-dorfman disease, familial, sinus histiocytosis and massive lymphadenopathy;shml;

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica


SOURCES: OMIM MONDO GARD UMLS MESH SCTID ORPHANET

More info about HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Recurrent infections Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Inflammatory abnormality of the skin Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Immunodeficiency Failure to thrive Seizures Alopecia Pica Microcephaly Autoimmune thrombocytopenia Flexion contracture Ichthyosis Recurrent respiratory infections Anemia Milia Autosomal recessive inheritance Autosomal dominant inheritance Hernia Erythema Hypertelorism Umbilical hernia Abnormal facial shape Nail dystrophy Primary amenorrhea Abnormality of the kidney Unilateral renal agenesis Hydronephrosis Inguinal hernia Eczema Low posterior hairline Amenorrhea Hydrocephalus Atrial septal defect Micrognathia Asthma Hypoplasia of the corpus callosum Renal dysplasia Fever Ventricular septal defect Tics Cleft palate Purpura Scoliosis Vitiligo Patent ductus arteriosus Dry skin Delayed skeletal maturation Growth hormone deficiency Arthritis Hypothyroidism Ptosis Abnormal heart morphology Specific learning disability Alopecia totalis Bronchiectasis Growth delay Intellectual disability, mild Generalized hypotonia Thrombocytopenia Obesity Posteriorly rotated ears Decreased antibody level in blood Erythroderma Hyperkeratosis

Rare Symptoms - Less than 30% cases


Tetralogy of Fallot Abnormality of the hand Cholelithiasis Arnold-Chiari malformation Autoimmunity Schizophrenia Renal cyst Bulbous nose Bicuspid aortic valve Nasal speech Renal agenesis Hypocalcemia Spina bifida Hemolytic anemia Multicystic kidney dysplasia Bifid uvula Chorea Acne Aplasia of the uterus Rheumatoid arthritis Blepharitis Sacral meningocele Episcleritis Right aortic arch with mirror image branching Microphthalmia Astigmatism Plagiocephaly Delayed puberty Epidermal acanthosis Aplasia of the thymus Recurrent pharyngitis Malabsorption Camptodactyly Abnormality of the hair Urticaria Congenital ichthyosiform erythroderma Ventriculomegaly Frontal bossing Arteria lusoria Scleritis Hypoparathyroidism Seborrheic dermatitis Inflammation of the large intestine Autoimmune hemolytic anemia Submucous cleft hard palate Bipolar affective disorder Myelomeningocele Truncus arteriosus Posterior embryotoxon Juvenile rheumatoid arthritis Impaired T cell function Blepharophimosis Interrupted aortic arch Graves disease Conotruncal defect Perimembranous ventricular septal defect Right aortic arch Duodenal stenosis Retinal vascular tortuosity Congenital cataract Meningocele Mental deterioration Palmoplantar keratoderma Cataract Muscular hypotonia Congenital onset Agenesis of corpus callosum Abnormality of the middle ear Elevated erythrocyte sedimentation rate Sinusitis Recurrent pneumonia Papule Short neck Skin rash Hepatosplenomegaly Proptosis Absent speech Edema Splenomegaly Hepatomegaly Hirsutism Short palpebral fissure Cognitive impairment Retinopathy Intellectual disability, severe Cerebellar atrophy Conductive hearing impairment Abnormality of cardiovascular system morphology Retrognathia Abnormality of the pinna Dementia Behavioral abnormality Flat face Hypertriglyceridemia Aganglionic megacolon Facial telangiectasia Hypohidrosis Hypoplasia of dental enamel Broad finger Omphalocele Hypotrichosis Corneal arcus Choanal atresia Ectodermal dysplasia Postaxial hand polydactyly Scarring Oligohydramnios Mitral valve prolapse Panniculitis Abnormality of the nail Bilateral sensorineural hearing impairment Abnormal vertebral morphology Hydroureter Absent septum pellucidum Atonic seizures Intestinal obstruction Abnormality of the vertebral column Absent eyebrow Scaling skin Keratitis Bifid scrotum Generalized lymphadenopathy Recurrent bacterial infections Hemivertebrae Conjunctivitis Reticulocytopenia Abnormality of dental enamel Wide intermamillary distance Hypertrichosis Myelofibrosis Brain atrophy Opacification of the corneal stroma Abnormality of the ribs Pulmonary hypoplasia Nail dysplasia Intrauterine growth retardation Upper eyelid edema Cerebellar hypoplasia Dilatation Respiratory distress Kyphosis Bilateral camptodactyly Seborrheic keratosis Myopia Feeding difficulties Polyhydramnios Cryptorchidism Motor delay Nystagmus Trachyonychia Central adrenal insufficiency Alopecia areata Adrenocorticotropic hormone deficiency Chronic sinusitis Mania X-linked recessive inheritance Cerebral cortical atrophy Postaxial polydactyly Cervical lymphadenopathy Postural instability Uveitis Talipes Platyspondyly Corneal opacity Stiff skin Hip dislocation Abnormality of cardiovascular system physiology Developmental regression Severe short stature Respiratory tract infection Camptodactyly of finger Photophobia Hyperhidrosis Epistaxis Polydactyly Macrotia Abnormality of the genital system Oxycephaly Mixed hearing impairment Ectrodactyly Abnormality of the eyelashes Anteverted nares Sleep apnea Hyperglycemia Micropenis Pneumonia Coma Increased antibody level in blood Abnormality of the skeletal system Lipoatrophy Hallux valgus Lipodystrophy Wide nasal bridge Brachydactyly Microcytic anemia Hyperreflexia Peripheral neuropathy Stridor Enlarged kidney Epicanthus Episodic fever Adrenal insufficiency Clinodactyly Abnormal eyebrow morphology Elbow flexion contracture Polyneuropathy Recurrent fractures Lymphadenopathy Decreased testicular size Abnormality of the foot Cleft upper lip Hypergonadotropic hypogonadism Cardiomegaly Abnormal cardiac septum morphology Diabetes mellitus Pectus carinatum Apnea Telangiectasia Dyspnea Pes planus Osteolysis Azoospermia Hypogonadism Aspiration Polycythemia Exocrine pancreatic insufficiency Corneal erosion Olivopontocerebellar atrophy Abnormal nasolacrimal system morphology Corneal scarring Abnormality of the upper urinary tract Full cheeks Alopecia universalis Nasal obstruction Cheilitis Blue sclerae Heat intolerance Hyperplasia of the maxilla Follicular hyperkeratosis Oligodactyly Parakeratosis Abnormal eyelid morphology Hypoplastic fingernail Alopecia of scalp Pancreatic hypoplasia Gynecomastia Absent eyelashes Thin eyebrow Hyperconvex fingernails Scleroderma Gingival overgrowth Sensorineural hearing impairment Unilateral chest hypoplasia Ichthyosis follicularis Severe sensorineural hearing impairment Abnormal pelvis bone morphology Thin fingernail Skin nodule Varicose veins Decreased serum testosterone level Abnormality of temperature regulation Communicating hydrocephalus Cerebral cortical hemiatrophy Hypoplasia of the bladder Aspiration pneumonia Paronychia Histiocytosis Chronic rhinitis Hyperpigmentation of the skin Subcortical cerebral atrophy Recurrent corneal erosions Wormian bones Meningitis Psychosis Hypoplasia of the brainstem Anal stenosis Apathy Dysdiadochokinesis Narrow palpebral fissure Holoprosencephaly Hallucinations Open mouth Peripheral demyelination Abnormality of the ear Underdeveloped nasal alae Vesicoureteral reflux Dysmetria Pulmonic stenosis Anal atresia Anxiety Aggressive behavior Hyperactivity Depressivity Myopathic facies Obsessive-compulsive behavior Nevus Giant platelets Vascular ring Perineal fistula Central nervous system degeneration Psychotic episodes Mood swings Paranoia Velopharyngeal insufficiency Perseveration Platybasia Cystic renal dysplasia Abnormality of the vasculature Abnormality of the larynx Pulmonary artery atresia Abnormality of the endocrine system Echolalia Delusions Hearing abnormality Pierre-Robin sequence Axonal loss Basal ganglia calcification Hypospadias Recurrent cystitis Unilateral lung agenesis Prominent forehead Thin skin Cutaneous photosensitivity Depressed nasal ridge Convex nasal ridge Arachnodactyly Carious teeth Genu valgum Pruritus Abnormality of metabolism/homeostasis Abnormality of retinal pigmentation Short nose Downslanted palpebral fissures Visual impairment Depressed nasal bridge Tetraplegia Spastic tetraplegia Severe combined immunodeficiency Pulmonary artery stenosis Natal tooth Hepatitis Lymphedema Crusting erythematous dermatitis Aplasia/Hypoplasia of the skin Diffuse telangiectasia Facial hirsutism Poliosis White forelock Chronic lung disease Myelitis Hypoplasia of the zygomatic bone Petechiae Prolonged neonatal jaundice Abnormality of the hip bone Skin ulcer Abnormality of the immune system Osteomyelitis Systemic lupus erythematosus Reduced bone mineral density Abnormality of the fingernails Abnormal lung morphology Bilateral single transverse palmar creases Generalized hirsutism Low anterior hairline Congenital conductive hearing impairment Unilateral primary pulmonary dysgenesis Cortical visual impairment Sparse scalp hair Intracranial hemorrhage Brittle hair Sparse eyelashes Acanthosis nigricans Aminoaciduria Dehydration Sparse and thin eyebrow Fine hair Abnormality of the periungual region Emphysema Severe B lymphocytopenia Abnormal size of pituitary gland Severe viral infections Decreased circulating androgen level Decreased serum insulin-like growth factor 1 Adrenocorticotropin deficient adrenal insufficiency Decreased circulating ACTH level Hypoglycemic coma Recurrent hypoglycemia Ectopic kidney Abnormal intestine morphology Decreased circulating cortisol level Allergic rhinitis Hypoglycemia Renal insufficiency Dysphagia Gait disturbance Spasticity Hypernatremic dehydration Hypernatremia Immunologic hypersensitivity Congenital bullous ichthyosiform erythroderma Angioedema Abnormality of the musculature Increased IgE level Congenital nonbullous ichthyosiform erythroderma Trichorrhexis nodosa Atopic dermatitis Verrucae Villous atrophy Severe postnatal growth retardation Irregular hyperpigmentation Papilloma Recurrent bronchitis Recurrent sinusitis Strabismus Microtia Amblyopia Exotropia Coarctation of aorta Broad thumb Esotropia High, narrow palate Iris coloboma Polymicrogyria Cleft lip Attention deficit hyperactivity disorder Hypoplasia of the thymus Nephrotic syndrome Craniosynostosis Short philtrum Telecanthus Narrow mouth Hypertonia High palate Neoplasm Low-set ears Sclerocornea Tetany Hyponatremia Hypocholesterolemia Recurrent upper respiratory tract infections Diplopia Absence seizures Recurrent otitis media Hypotension Sepsis Lymphopenia Fatigue Decreased LDL cholesterol concentration Arthralgia Femoral hernia Parathyroid agenesis Type I truncus arteriosus Parathyroid hypoplasia Esophoria Vascular tortuosity Abnormality of the thymus Perisylvian polymicrogyria Alcoholism Anterior segment developmental abnormality Retroperitoneal fibrosis



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