Delayed speech and language development, and Recurrent urinary tract infections

Diseases related with Delayed speech and language development and Recurrent urinary tract infections

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


Top matches:

Medium match PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as nucleoside phosphorylase deficiency;pnp deficiency; pnpase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: SCTID NCIT OMIM ORPHANET DOID MESH GARD UMLS MONDO ICD10

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

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 CHROMOSOME 17q12 DELETION SYNDROME

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

CHROMOSOME 17q12 DELETION SYNDROME Is also known as ;del(17)(q12); monosomy 17q12

Related symptoms:

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


SOURCES: UMLS DOID ORPHANET MONDO GARD OMIM

More info about CHROMOSOME 17q12 DELETION SYNDROME

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Other less relevant matches:

Medium 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

Medium match COLD-INDUCED SWEATING SYNDROME 1; CISS1

Cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Cold-Induced Sweating SyndromeCold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome, sohar-crisponi syndrome, muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death;ciss

Related symptoms:

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


SOURCES: MONDO OMIM UMLS GARD ORPHANET MESH

More info about COLD-INDUCED SWEATING SYNDROME 1; CISS1

Medium match ACHONDROPLASIA; ACH

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Autosomal dominant inheritance
  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment


SOURCES: ICD10 NCIT DOID MESH GARD MONDO OMIM

More info about ACHONDROPLASIA; ACH

Medium match TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2

Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 Is also known as langer-giedion syndrome;lgs, chromosome 8q24.1 deletion syndrome;deletion 8q24.1; langer-giedion syndrome; monosomy 8q24.1

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET MONDO UMLS OMIM GARD MESH DOID NCIT SCTID

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2

Medium match PHELAN-MCDERMID SYNDROME; PHMDS

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome, telomeric 22q13 monosomy syndrome;22q13 deletion; phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: UMLS MONDO OMIM ORPHANET GARD SCTID MESH

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Medium match GENITOPATELLAR SYNDROME; GTPTS

Genitopatellar syndrome is a rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies (summary by Penttinen et al., 2009).The SBBYS variant of Ohdo syndrome (OMIM ) is an allelic disorder with overlapping features.

GENITOPATELLAR SYNDROME; GTPTS Is also known as absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation;absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome

Related symptoms:

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


SOURCES: MESH UMLS MONDO SCTID GARD ORPHANET OMIM

More info about GENITOPATELLAR SYNDROME; GTPTS

Medium match CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL Is also known as distal chromosome 22q11.2 deletion syndrome;distal del(22)(q11.2); distal monosomy 22q11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH UMLS DOID OMIM MONDO ORPHANET

More info about CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Recurrent urinary tract infections

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Pica Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Recurrent urinary tract infections. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Nevus Depressed nasal bridge Malar flattening Short palm Feeding difficulties Autosomal recessive inheritance Scoliosis Micrognathia Abnormal facial shape Autosomal dominant inheritance Downslanted palpebral fissures Long philtrum Cleft palate Immunodeficiency Microcephaly Motor delay Muscular hypotonia Ventriculomegaly Apnea Abnormality of the skeletal system Cryptorchidism Brachydactyly Deeply set eye Gastroesophageal reflux Conductive hearing impairment Growth delay Abnormality of cardiovascular system morphology Abnormal lung morphology Hepatitis High palate Ventricular septal defect Full cheeks Neoplasm Agenesis of corpus callosum Wide nasal bridge Pain Flexion contracture Obesity Patent ductus arteriosus Sensorineural hearing impairment Retrognathia Highly arched eyebrow Hypermetropia Atrial septal defect Facial asymmetry Protruding ear Hydronephrosis Recurrent infections Tics Ptosis Otitis media Anemia Recurrent upper respiratory tract infections Edema Sinusitis

Rare Symptoms - Less than 30% cases


Clinodactyly of the 5th finger Lymphoma Strabismus Abnormal heart morphology Prominent nasal bridge Central apnea Hypopnea Language impairment Multicystic kidney dysplasia Macrocephaly Pneumonia Behavioral abnormality Intellectual disability, severe Splenomegaly Hyperlordosis Autism Mandibular prognathia Sleep disturbance Renal insufficiency Frontal bossing Lymph node hypoplasia Epicanthus Hypertelorism Limited elbow extension Thrombocytopenia Fever Pes planus Talipes equinovarus Low-set ears Lymphopenia Hyporeflexia Polyhydramnios Pointed chin Narrow mouth High, narrow palate Cor pulmonale Myelopathy Kyphoscoliosis Depressivity Chronic otitis media Cellulitis Blepharophimosis Attention deficit hyperactivity disorder Dolichocephaly Sepsis Wide nose Tetraparesis Weight loss Underdeveloped nasal alae Tongue thrusting Diarrhea Recurrent bacterial infections Hip contracture Milia Anal stenosis Bulbous nose Talipes Lymphedema Arachnodactyly Joint hyperflexibility Abnormality of the dentition Spinal cord compression Failure to thrive Ataxia Low posterior hairline Recurrent pneumonia Osteomyelitis Bowel incontinence Macrotia Short nose Bilateral single transverse palmar creases Thin upper lip vermilion Cognitive impairment Delayed puberty Thick eyebrow Skin rash Recurrent respiratory infections Intellectual disability, mild Sparse scalp hair Ectodermal dysplasia Carious teeth Vesicoureteral reflux Skin ulcer Genu valgum Myelitis Intellectual disability, moderate Oxycephaly Abnormality of the genital system Polydactyly Unsteady gait Hyperactivity EEG abnormality Umbilical hernia Lumbar kyphosis in infancy Nausea and vomiting Small foramen magnum Syndactyly Autistic behavior Neonatal hypotonia Hepatic failure Delayed skeletal maturation Febrile seizures Aggressive behavior Sporadic Brain stem compression Thick vermilion border Respiratory tract infection Limited hip extension Trident hand Spinal stenosis with reduced interpedicular distance Abnormality of the pinna Coma Dental malocclusion Bone pain Absent speech Cone-shaped epiphysis Absent fingernail Fragile nails Oligospermia Cone-shaped epiphyses of the phalanges of the hand Bilateral choanal atresia Exostoses Increased number of teeth Stroke Preaxial polydactyly Thick nasal alae Joint hypermobility Redundant skin Deep philtrum Abnormal palate morphology Growth hormone deficiency Hip dysplasia Scapular winging Joint dislocation Exotropia Vaginal atresia Auricular tag Constipation Scapular exostoses Joint laxity Ankyloglossia Joint stiffness Gynecomastia Abnormality of earlobe Gait disturbance Low-set, posteriorly rotated ears Redundant skin in infancy Multiple long-bone exostoses Finger syndactyly Avascular necrosis of the capital femoral epiphysis Rib exostoses Persistent cloaca Aplasia/Hypoplasia of the mandible Sparse hair Mild postnatal growth retardation Hydrometrocolpos Prune belly Absent toe Multiple exostoses Absent toenail Polycystic kidney dysplasia Tall stature Patellar dislocation Primary hypothyroidism Patellar hypoplasia Labial hypoplasia Beaking of vertebral bodies Patellar aplasia Short columella Hypoplastic ilia Bicuspid aortic valve Aortic regurgitation Oculomotor apraxia Aortic aneurysm Pyloric stenosis Narrow palpebral fissure Hypoplastic ischia Hypoplastic labia majora Anteriorly placed anus Bilateral talipes equinovarus Overfolded helix Obsessive-compulsive behavior Ulnar deviation of finger Ectopic kidney Inverted nipples Bronchitis Clitoral hypertrophy Broad neck Scrotal hypoplasia Laryngomalacia Colpocephaly Clitoral hypoplasia Abnormality of the genitourinary system Toe syndactyly Coxa valga Preauricular skin tag Bowing of the long bones Choanal atresia Congenital diaphragmatic hernia Premature birth Short distal phalanx of finger Long face Polymicrogyria Pulmonic stenosis Thin vermilion border Smooth philtrum Abnormal cardiac septum morphology Broad forehead Calcaneovalgus deformity Anal atresia Camptodactyly of finger Posteriorly rotated ears Hernia Inguinal hernia Intrauterine growth retardation Hypoplastic inferior pubic rami Absent scrotum Enlarged labia minora Abnormal bone structure Periventricular gray matter heterotopia Scrotal hypospadias Talipes calcaneovalgus Radioulnar synostosis Knee flexion contracture Cortical visual impairment Broad-based gait Periorbital fullness Heat intolerance Concave nasal ridge Delayed CNS myelination Bruxism Abnormality of the periventricular white matter Palpebral edema Arachnoid cyst Poor eye contact Impaired pain sensation 2-3 toe syndactyly Hypoplastic toenails Sandal gap Episodic vomiting Short chin Large hands Abnormality of the outer ear Recurrent skin infections Prominent supraorbital ridges Sacral dimple Accelerated skeletal maturation Long eyelashes Hypohidrosis Dental crowding Renal dysplasia Recurrent bronchitis Interrupted aortic arch Toenail dysplasia Cerebellar cortical atrophy Congenital hip dislocation Nephrotic syndrome Intellectual disability, progressive Heterotopia Short phalanx of finger Fine hair Narrow forehead Prominent nose Delayed eruption of teeth Downturned corners of mouth Pulmonary hypoplasia Renal cyst Abnormality of the kidney Severe global developmental delay Arthrogryposis multiplex congenita Hypothyroidism Hyperorality Coarse facial features Micropenis Osteoporosis Upslanted palpebral fissure Hypospadias Short 5th finger Dysphagia Choanal stenosis Truncus arteriosus Iritis Recurrent pyelonephritis Fulminant hepatic failure Hair-pulling Enlarged tonsils Hydrocephalus Cervical cord compression Oligohydramnios Unilateral renal agenesis Focal seizures with impairment of consciousness or awareness Schizophrenia Renal hypoplasia/aplasia Horizontal nystagmus Hypertrichosis Sparse and thin eyebrow Small nail Large fontanelles Stage 5 chronic kidney disease Bilateral sensorineural hearing impairment Renal hypoplasia Shawl scrotum Short foot Nail dystrophy Elevated hepatic transaminase High forehead Diabetes mellitus Cerebral atrophy Recurrent cystitis Crusting erythematous dermatitis Diffuse telangiectasia Facial hirsutism Poliosis Long fingers Ovarian cyst White forelock Encephalopathy Decreased antibody level in blood Neutropenia Malabsorption Autoimmunity Retinopathy Arthritis Dementia Alopecia Rod-cone dystrophy X-linked recessive inheritance Dilatation Fatigue Upper limb undergrowth Myopathy Pancreatic aplasia Ureteral atresia Aplasia of the vagina Abnormality of upper lip Hypoplasia of the bladder Subcortical cerebral atrophy Urethral stenosis Ureterocele Long toe Hyperconvex nail Aplasia of the uterus Abnormality of the middle ear Chronic lung disease Meningitis Hypouricemia Erythema Abnormality of metabolism/homeostasis Hepatomegaly Visual impairment Abnormality of B cell physiology Cerebral vasculitis Recurrent opportunistic infections Brain abscess Pure red cell aplasia Autoimmune neutropenia Abnormal T cell morphology Impaired T cell function Hyperkeratosis Recurrent viral infections Recurrent lower respiratory tract infections Autoimmune thrombocytopenia Autoimmune hemolytic anemia Spastic diplegia Spastic tetraparesis Spastic tetraplegia Tetraplegia Abnormal pyramidal sign Babinski sign Tremor Spasticity Prominent forehead Proptosis Hypoplasia of the zygomatic bone Generalized hirsutism 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 Systemic lupus erythematosus Reduced bone mineral density Abnormality of the fingernails Inflammatory abnormality of the skin Low anterior hairline Hepatosplenomegaly Abnormality of retinal pigmentation Asthma Thin skin Cutaneous photosensitivity Depressed nasal ridge Convex nasal ridge Eczema Hirsutism Palmoplantar keratoderma Dry skin Papule Pruritus Chronic diarrhea Telangiectasia Obstructive lung disease Leukemia Acanthosis nigricans Paraparesis Epiphyseal dysplasia Rhizomelia Overgrowth Epidermal acanthosis Recurrent otitis media Confusion Lumbar hyperlordosis Oral cleft Scarring Acrania Tinnitus Cleft lip Clonus Abnormality of the nervous system Skeletal dysplasia Rigidity Arthralgia Severe short stature Midface retrusion Hypertension Hyperreflexia Cold-induced sweating Genu varum Spondyloepiphyseal dysplasia Smooth tongue Obstructive sleep apnea Cervical myelopathy Central sleep apnea Chronic myelogenous leukemia Thoracolumbar kyphosis Neonatal short-limb short stature Multiple epiphyseal dysplasia Hypoxemia Communicating hydrocephalus Generalized joint laxity Dysuria Upper airway obstruction Myeloid leukemia Sleep apnea Osteopetrosis Small face Neuroblastoma Spinal canal stenosis Disproportionate short stature Megalencephaly Back pain Disproportionate short-limb short stature Infantile muscular hypotonia Flared metaphysis Short femoral neck Tibial bowing Facial tics Unexplained fevers Conjunctivitis Prostatitis Hyperhidrosis Respiratory failure Clinodactyly Respiratory distress Hypertonia Hypoplasia of the corpus callosum Anteverted nares Short neck Enteroviral hepatitis Enteroviral dermatomyositis syndrome Abnormality of the tonsils Epididymitis Facial palsy Septic arthritis Recurrent cutaneous abscess formation Pyoderma Thymoma Abnormality of the lymphatic system Agammaglobulinemia Glossoptosis Myositis Rheumatoid arthritis Encephalitis Hypopigmented skin patches Hypocalcemia Feeding difficulties in infancy Dyspnea Hypernatremic dehydration Opisthotonus Bilateral camptodactyly Temperature instability Velopharyngeal insufficiency Large face Trismus Narrow nose Functional respiratory abnormality Episodic fever Acute kidney injury Disproportionate tall stature Overlapping toe Keratitis Camptodactyly Phimosis Radial deviation of finger Adducted thumb Nasal speech Elbow flexion contracture Dehydration Cyanosis Generalized seizures Round face Falls Tapered finger Irritability Branchial fistula



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