Delayed speech and language development, and Ulcerative colitis

Diseases related with Delayed speech and language development and Ulcerative colitis

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


Top matches:

Medium match PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).

PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR Is also known as xlpdr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica
  • Failure to thrive


SOURCES: MONDO OMIM

More info about PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

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 BASAL CELL NEVUS SYNDROME; BCNS

BASAL CELL NEVUS SYNDROME; BCNS Is also known as gorlin syndrome, gorlin-goltz syndrome, nevoid basal cell carcinoma syndrome;nbccs, multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: MONDO DOID NCIT OMIM GARD

More info about BASAL CELL NEVUS SYNDROME; BCNS

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Other less relevant matches:

Medium match FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2

Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016).For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Pica
  • Hearing impairment
  • Scoliosis


SOURCES: UMLS MONDO OMIM

More info about FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2

Medium match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 Is also known as glycosylphosphatidylinositol biosynthesis defect 12;gpibd12

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MONDO UMLS OMIM

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Low match FOCAL DERMAL HYPOPLASIA; FDH

Focal dermal hypoplasia is inherited as an X-linked dominant with in utero lethality in males. The features include atrophy and linear pigmentation of the skin, herniation of fat through the dermal defects, and multiple papillomas of the mucous membranes or skin. In addition, digital anomalies consist of syndactyly, polydactyly, camptodactyly, and absence deformities. Oral anomalies, in addition to lip papillomas, include hypoplastic teeth. Ocular anomalies (coloboma of iris and choroid, strabismus, microphthalmia) have also been present in some cases. Mental retardation occurs in some patients. Striated bones are probably a nearly constant feature (Larregue and Duterque, 1975; Happle and Lenz, 1977).Reports from the International Research Symposium on Goltz Syndrome in 2013 were published in the American Journal of Medical Genetics; the authors and subjects of the reports are listed in an introduction by Fete and Fete (2016).

FOCAL DERMAL HYPOPLASIA; FDH Is also known as fodh;dhof, goltz syndrome, goltz-gorlin syndrome;goltz syndrome; goltz-gorlin syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pica
  • Hearing impairment
  • Microcephaly


SOURCES: MONDO SCTID NCIT DOID GARD ORPHANET OMIM MESH

More info about FOCAL DERMAL HYPOPLASIA; FDH

Low match EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT; EPVB6D

Early-onset vitamin B6-dependent epilepsy is an autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period or first months of life. The seizures show favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine. However, most patients show delayed psychomotor development (summary by Darin et al., 2016).

EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT; EPVB6D Is also known as ;becrs; bects; bre; benign epilepsy of childhood with centrotemporal spikes; benign familial epilepsy of childhood with rolandic spikes; benign rolandic epilepsy; centrotemporal epilepsy

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly


SOURCES: OMIM ORPHANET

More info about EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT; EPVB6D

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5

Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency, bone marrow failure, and cerebellar hypoplasia. Patients with mutations in the RTEL1 gene tend to present with HHS (summary by Walne et al., 2013).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

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


SOURCES: DOID UMLS OMIM MONDO

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC (OMIM ), cblD, and cblF (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ), caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24. Another form of isolated MMA (OMIM ) can be caused by defect in the transcobalamin receptor (CD320 ).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE Is also known as methylmalonic acidemia and homocystinuria, cbld type methylmalonic aciduria, cblh type, formerly, methylmalonic acidemia, cblh type, formerly;functional methionine synthase deficiency type cbldv1

Related symptoms:

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


SOURCES: ORPHANET MONDO DOID GARD MESH OMIM

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE

Low match HERMANSKY-PUDLAK SYNDROME 6; HPS6

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Anemia


SOURCES: NCIT OMIM UMLS MONDO DOID

More info about HERMANSKY-PUDLAK SYNDROME 6; HPS6

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

Symptoms // Phenotype % cases
Colitis Very Common - Between 80% and 100% 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
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Enterocolitis Hearing impairment Nystagmus Anemia Cleft palate Scarring Scoliosis Pica Strabismus Nevus Growth delay Autosomal dominant inheritance Abnormality of skin pigmentation Cerebellar atrophy Abdominal pain Inguinal hernia Hernia

Rare Symptoms - Less than 30% cases


Nail dystrophy Short metatarsal Flexion contracture Pointed chin Congenital hip dislocation Low-set ears Abnormality of the pinna Depressed nasal bridge Nail dysplasia High palate Patent ductus arteriosus Broad nasal tip Respiratory distress Gastroesophageal reflux Short ribs Cryptorchidism Hydrocephalus Acrania Iris coloboma Papule Cleft upper lip Coloboma Abnormal lung morphology Polydactyly Microphthalmia Tics Hypertelorism Wide nasal bridge Downslanted palpebral fissures Brachydactyly Neoplasm Spina bifida occulta Cataract Glaucoma Micrognathia Exotropia Spina bifida Short metacarpal Myoclonus Dysphagia Visual impairment Pain Diarrhea Poor speech Short stature Hyperpigmentation of the skin Intrauterine growth retardation Hip contracture Vomiting Generalized hypotonia Ataxia Abnormal facial shape Cognitive impairment Inflammation of the large intestine Hypoplasia of the corpus callosum Cerebellar hypoplasia Alopecia Hypertonia EEG with multifocal slow activity Abnormality of dental morphology Anophthalmia Open bite Thickened helices Prominent nasal tip Shortening of all distal phalanges of the fingers Supernumerary nipple Increased body weight Preauricular pit Reduced number of teeth Ectopia lentis Papilloma Oligodontia Chorioretinal coloboma Arnold-Chiari malformation Echogenic fetal bowel Short finger Brittle hair Aplasia/Hypoplasia of the skin Chronic lung disease Hypoplastic nipples Ectrodactyly Aniridia Short clavicles Stenosis of the external auditory canal Foot polydactyly Aspiration Aplasia cutis congenita Sparse hair Anteriorly placed anus 2-3 toe syndactyly Dermal atrophy Mixed hearing impairment Stridor Hypermelanotic macule Facial cleft Telangiectasia of the skin Long palpebral fissure Nephrotic syndrome Corneal opacity Large earlobe Toe syndactyly Facial asymmetry Abnormal cardiac septum morphology Subcutaneous nodule Umbilical hernia Hydronephrosis Omphalocele Joint laxity Short phalanx of finger Camptodactyly of finger Split hand Abnormality of epiphysis morphology Thin skin Abnormal heart morphology X-linked dominant inheritance Intestinal malrotation Hiatus hernia Congenital diaphragmatic hernia Postaxial hand polydactyly Renal hypoplasia Weight loss Dental malocclusion Abnormality of the skin Hypoplasia of dental enamel Abnormality of the nail Hypodontia Agenesis of corpus callosum Optic atrophy Ventricular septal defect Abnormality of the dentition Hand polydactyly Abnormality of cardiovascular system morphology Obesity Hoarse voice Abnormality of the foot Syndactyly Erythema Telangiectasia Renal hypoplasia/aplasia Multicystic kidney dysplasia Abnormality of dental enamel Macule Horseshoe kidney Reduced visual acuity Finger syndactyly Cough Delayed eruption of teeth Aplasia/Hypoplasia of the lungs Total anomalous pulmonary venous return Acute hepatic failure Esophageal stenosis Ethylmalonic aciduria Cystinuria Megaloblastic anemia Intracranial hemorrhage Aciduria Lethargy Abnormality of the nervous system Cerebral cortical atrophy Dystonia Infantile onset Muscular hypotonia Esophageal stricture Spastic ataxia Oral leukoplakia Pulmonary fibrosis Bone marrow hypocellularity Leukopenia Lymphopenia Decreased antibody level in blood Carious teeth Small for gestational age Postnatal growth retardation Immunodeficiency Depressivity Thrombocytopenia Methylmalonic aciduria Homocystinuria Fetal distress Recurrent urinary tract infections Abnormal platelet granules Endometriosis Prolonged bleeding after dental extraction Partial albinism Rotary nystagmus Generalized hypopigmentation Ocular albinism Congenital nystagmus Hypoplasia of the fovea Interstitial pulmonary abnormality Albinism Epistaxis Increased mean corpuscular volume Migraine Spontaneous abortion Bruising susceptibility Anal atresia Headache Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Decreased adenosylcobalamin Decreased methionine synthase activity Decreased methylcobalamin Hyperhomocystinemia Methylmalonic acidemia Prenatal movement abnormality Muscle fibrillation Split foot Hand oligodactyly Rough bone trabeculation Abnormality of the middle ear Upper limb asymmetry Absent toenail Inspiratory stridor Absent fingernail Abnormal cornea morphology Clitoral hypoplasia Cholangitis Anomalous pulmonary venous return Bifid nose Abnormality of hair texture Foot oligodactyly Diastasis recti Abnormality of the larynx Labial hypoplasia Verrucae Hypoplastic pelvis Lower limb asymmetry Narrow nasal bridge Skin nodule Duodenal atresia Truncus arteriosus Hypoplasia of the iris Myelomeningocele Patchy alopecia Reticular hyperpigmentation Postnatal microcephaly Giant cell tumor of bone Abdominal distention Brain atrophy Metabolic acidosis Pruritus Clonus Apnea Acidosis Respiratory insufficiency Ventriculomegaly Midclavicular aplasia Midclavicular hypoplasia Apocrine hidrocystoma Abnormal palmar dermatoglyphics Nonproductive cough Linear hyperpigmentation Ectopia cordis Cholesteatoma Abnormality of the pulmonary vasculature Bifid ureter Osteopathia striata Abnormal adipose tissue morphology Cleft ala nasi Abnormality of the mediastinum Absence of the sacrum Caudal appendage Elevated alkaline phosphatase Hyperostosis Knee flexion contracture Uveitis Speech apraxia Impaired proprioception Saccadic smooth pursuit Corpus callosum atrophy Head tremor Hypoplasia of the pons Oligomenorrhea Progeroid facial appearance Hand tremor Gaze-evoked nystagmus Hyperactive deep tendon reflexes Iridocyclitis Ankle clonus Sensory axonal neuropathy Postural tremor Retinal atrophy Adducted thumb Type I diabetes mellitus Oculomotor apraxia External ophthalmoplegia Pancreatitis Horizontal nystagmus Delayed menarche Abnormal involuntary eye movements Lower limb spasticity Retrognathia Cerebral calcification Cleft lip Carcinoma Facial palsy EEG abnormality Kyphoscoliosis Proptosis Coarse facial features Mandibular prognathia Oxycephaly Heterogeneous Parietal cortical atrophy Pectus excavatum Coma Abnormality of the skeletal system Edema Frontal bossing Macrocephaly Milia Motor delay Abnormality of the sella turcica Old-aged sensorineural hearing impairment Abnormal motor evoked potentials Truncal ataxia Limb ataxia Abnormality of the ribs Chronic diarrhea Urethral stricture Recurrent infection of the gastrointestinal tract Broad eyebrow Corneal scarring Amyloidosis Keratitis Failure to thrive in infancy Hemiplegia Corneal dystrophy Opacification of the corneal stroma Hypohidrosis Red eye Bronchiectasis Recurrent pneumonia X-linked inheritance Photophobia Hyperkeratosis Visual loss X-linked recessive inheritance Pneumonia Abnormality of metabolism/homeostasis Blindness Failure to thrive Cutaneous amyloidosis Generalized reticulate brown pigmentation Memory impairment Difficulty walking Type II diabetes mellitus Progressive cerebellar ataxia Postural instability Infertility Arachnodactyly Unsteady gait Peripheral axonal neuropathy Distal amyotrophy Ophthalmoplegia Neurological speech impairment Rigidity Spasticity Hypothyroidism Hypogonadism Gait ataxia Diabetes mellitus Progressive Babinski sign Tremor Gait disturbance Dysarthria Hyperreflexia Peripheral neuropathy Postaxial polydactyly Oral cleft Elbow flexion contracture Joint dislocation Pierre-Robin sequence Dislocated radial head Decreased muscle mass Prominent supraorbital ridges Metaphyseal dysplasia Pyloric stenosis Patent foramen ovale Deep philtrum Abnormality of the genitourinary system Bicuspid aortic valve Coxa valga Fused cervical vertebrae Low anterior hairline Bowing of the long bones Blue sclerae Full cheeks Webbed neck Bifid uvula Hirsutism Thick eyebrow Pulmonic stenosis Delayed puberty Camptodactyly Tracheal stenosis Ulnar deviation of the hand Feeding difficulties in infancy Osteopenia Limb undergrowth Narrow forehead Hip dysplasia Bulbous nose Congenital cataract Deeply set eye Developmental regression Wide mouth Respiratory tract infection Muscular hypotonia of the trunk Hyperactivity Neurogenic bladder Clinodactyly Polyhydramnios Dilatation Congenital onset Elevated serum creatine phosphokinase Anteverted nares Short neck Feeding difficulties Large joint dislocations Subglottic stenosis Short philtrum Conductive hearing impairment Hypotension Ovarian cyst Medulloblastoma Broad face Skin tags Brain neoplasm Astrocytoma Neoplasm of the endocrine system Short 4th metacarpal Down-sloping shoulders Thoracic scoliosis Sprengel anomaly Abnormality of the sternum Cervical ribs Disproportionate tall stature Long fingers Basal cell carcinoma Vertebral fusion Hamartoma Fibroma Relative macrocephaly Neoplasm of the skin Hemivertebrae Bradycardia Hemiparesis Supernumerary ribs Hamartomatous polyposis Abnormality of the genital system Bifid ribs Intellectual disability, mild Talipes equinovarus Sensorineural hearing impairment Hamartomatous stomach polyps Irregular ossification of hand bones Mesenteric cyst Bridged sella turcica Cardiac fibroma Odontogenic keratocysts of the jaw Ovarian fibroma Calcification of falx cerebri Ectopic calcification Plantar pits Severe hydrocephalus Histiocytoma Cardiac rhabdomyoma Orbital cyst Palmar pits Short distal phalanx of the thumb Multiple impacted teeth Vertebral wedging Parietal bossing Ovarian carcinoma Impaired ADP-induced platelet aggregation


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