Delayed speech and language development, and Scarring

Diseases related with Delayed speech and language development and Scarring

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


Top matches:

Low match LIPOID PROTEINOSIS OF URBACH AND WIETHE

Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane (summary by Hamada et al., 2002 and Hamada et al., 2003).

LIPOID PROTEINOSIS OF URBACH AND WIETHE Is also known as lipoid proteinosis, urbach-wiethe disease, hyalinosis cutis et mucosae;hyalinosis cutis et mucosae; urbach-wiethe disease

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Pica
  • High palate


SOURCES: SCTID MESH GARD DOID OMIM NCIT UMLS ORPHANET MONDO

More info about LIPOID PROTEINOSIS OF URBACH AND WIETHE

Low match ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL Is also known as ;haberland syndrome

Related symptoms:

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


SOURCES: ORPHANET SCTID MESH GARD OMIM UMLS MONDO NCIT

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL

Low 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

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Other less relevant matches:

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 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219100}. Genetic Heterogeneity of de Barsy SyndromeAlso see ARCL3B (OMIM ), caused by mutation in the PYCR1 gene (OMIM ) on chromosome 17q25.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Is also known as de barsy syndrome a, cutis laxa, corneal clouding, and mental retardation, progeroid syndrome of de barsy

Related symptoms:

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


SOURCES: MONDO OMIM DOID ORPHANET

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

Low match VESICOURETERAL REFLUX 3; VUR3

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypoplasia of the corpus callosum


SOURCES: MONDO OMIM UMLS

More info about VESICOURETERAL REFLUX 3; VUR3

Low match FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).FFDD2 (OMIM ) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (OMIM ).

FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 Is also known as setleis syndrome, bitemporal forceps marks syndrome, facial ectodermal dysplasia, focal facial dermal dysplasia, type ii, formerly

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Depressed nasal bridge
  • Tics
  • Anal atresia


SOURCES: OMIM

More info about FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

Low match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Abnormal facial shape
  • Muscle weakness
  • Myopathy
  • High palate


SOURCES: MONDO UMLS OMIM

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Low match BETHLEM MYOPATHY 1; BTHLM1

Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

BETHLEM MYOPATHY 1; BTHLM1 Is also known as bethlem myopathy, myopathy, benign congenital, with contractures, muscular dystrophy, benign congenital;benign autosomal dominant myopathy

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Generalized hypotonia
  • Motor delay
  • Muscle weakness


SOURCES: UMLS SCTID OMIM ORPHANET MONDO

More info about BETHLEM MYOPATHY 1; BTHLM1

Low match FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A

Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 (OMIM ). CFEOM2 (OMIM ) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by Yamada et al., 2004 and Heidary et al., 2008).Yamada et al. (2003) concluded that CFEOM3 is a relatively rare form of CFEOM. Genetic Heterogeneity of CFEOM3The CFEOM3 phenotype is genetically heterogeneous; see also CFEOM3B (OMIM ), caused by mutation in the KIF21A gene on chromosome 12q12, and CFEOM3C (OMIM ), which maps to chromosome 13q.

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A Is also known as feom3 locus

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Ptosis
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: MESH OMIM MONDO UMLS

More info about FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Autosomal dominant inheritance Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pica Flexion contracture High palate Acrania Seizures Cryptorchidism Hypoplasia of the corpus callosum Failure to thrive Hydronephrosis Atrial septal defect Ventricular septal defect Nevus Joint laxity Protruding ear Agenesis of corpus callosum Joint hypermobility Ventriculomegaly Abnormality of the genital system Motor delay Frontal bossing Short stature Hearing impairment Depressed nasal bridge Sporadic

Rare Symptoms - Less than 30% cases


Malar flattening Cortical dysplasia Aplasia cutis congenita Glioma Scoliosis Growth delay Microcephaly Infantile muscular hypotonia Generalized joint laxity Recurrent urinary tract infections Pain Cleft lip Hyperreflexia Conductive hearing impairment Severe short stature Hypertension Myopathy Cataract Strabismus Downslanted palpebral fissures Wrist flexion contracture Multiple joint contractures Adducted thumb Decreased fetal movement Blue sclerae Sparse hair Respiratory failure Brachycephaly Hernia Camptodactyly of finger Patent ductus arteriosus Inguinal hernia Talipes equinovarus Skeletal muscle atrophy Nasal speech Ptosis Hypotelorism Underdeveloped nasal alae Vesicoureteral reflux Arachnodactyly Bulbous nose Hip dislocation Nephrotic syndrome High forehead Macrotia Pectus excavatum Intrauterine growth retardation Epicanthus Sacral dimple Muscle weakness Lipodystrophy Kyphosis Hydrocephalus Tics Hyperkeratosis Rigidity Cerebral calcification Absent speech Skeletal dysplasia Alopecia Fragile skin Coloboma Papule Corneal opacity Paralysis Cerebral atrophy Macrocephaly Neoplasm Spasticity Subcutaneous nodule Iris coloboma Triangular face Progressive cerebellar ataxia High myopia Bilateral sensorineural hearing impairment Delayed eruption of teeth Aggressive behavior Large fontanelles Sepsis Cerebellar vermis hypoplasia Thin skin Athetosis Hemangioma Wide anterior fontanel Mild short stature Premature skin wrinkling Recurrent sinopulmonary infections Delayed closure of the anterior fontanelle Overlapping fingers Large earlobe Neurodevelopmental delay Progeroid facial appearance Severe intrauterine growth retardation Severe failure to thrive Subcapsular cataract Prematurely aged appearance Progressive microcephaly Thin ribs Nuclear cataract Decreased muscle mass Poor suck Hyperextensible skin Hyperammonemia Cutis laxa Coxa vara Wormian bones Congenital hip dislocation Abnormality of skin pigmentation Opacification of the corneal stroma Thin vermilion border Distal amyotrophy Expressive language delay Hypotrophy of the small hand muscles Abnormality of hair pigmentation Broad chin Positional foot deformity Pear-shaped nose Conspicuously happy disposition Narrow palm Contiguous gene syndrome Multifocal epileptiform discharges Prominent fingertip pads Micrognathia Anteverted ears Spondylolisthesis Abnormality of hair texture Slender finger Prominent metopic ridge Long fingers Vertebral fusion Sparse eyebrow Failure to thrive in infancy Hypertelorism Muscular hypotonia Polar cataract Narrow mouth Deeply set eye Carcinoma Difficulty walking Postnatal growth retardation Umbilical hernia Kyphoscoliosis Osteopenia Mandibular prognathia Prominent forehead Abnormality of the skin Low-set ears Thick lower lip vermilion Delayed skeletal maturation Vomiting Memory impairment Respiratory insufficiency Abnormal blistering of the skin Tremor Anteverted nares Myopia Hallucinations Capsular cataract Dermal translucency Recurrent respiratory infections Respiratory insufficiency due to muscle weakness Abnormality of the mitochondrion Follicular hyperkeratosis Progressive proximal muscle weakness Proximal amyotrophy Ankle contracture Congenital contracture Congenital muscular dystrophy Cachexia Torticollis EMG abnormality Limb-girdle muscle weakness Elbow flexion contracture Trophic changes related to pain Abnormality of the cardiovascular system Muscular dystrophy Distal muscle weakness Slow progression Joint stiffness Neonatal hypotonia Proximal muscle weakness Elevated serum creatine phosphokinase Diaphragmatic paralysis Congenital muscular torticollis Bilateral talipes equinovarus Situs inversus totalis Levator palpebrae superioris atrophy Nonprogressive restrictive external ophthalmoplegia Superior rectus atrophy Restrictive external ophthalmoplegia Compensatory chin elevation Congenital fibrosis of extraocular muscles Corneal scarring External ophthalmoplegia Amblyopia Exotropia Limb-girdle muscle atrophy Joint contracture of the hand Specific learning disability Esotropia Peripheral axonal neuropathy Ophthalmoplegia Abnormality of movement Facial palsy Peripheral neuropathy Plantar flexion contractures Necrotizing myopathy Cardiomyopathy Delayed gross motor development Abnormal corpus callosum morphology Premature rupture of membranes Constipation Polyhydramnios Intellectual disability, mild Abnormal fundus fluorescein angiography Small, conical teeth Fragmented elastic fibers in the dermis Prominent superficial blood vessels Hyperprolinemia Hypoargininemia Prominent veins on trunk Hydroureter Prominent nasolabial fold Hypoplastic aortic arch Persistent left superior vena cava Corneal arcus Talipes calcaneovalgus Calcaneovalgus deformity Wide cranial sutures Overfolded helix Narrow nasal ridge Excessive wrinkled skin Muscular hypotonia of the trunk Chronic constipation Patent foramen ovale Multiple rows of eyelashes Dental crowding Generalized muscle weakness Talipes Myalgia Telecanthus Dysphagia Dystonia Abnormal facial shape Aged leonine appearance Absent lower eyelashes Periorbital fullness Anal atresia Absent eyelashes Abnormality of the sternum Dermal atrophy Conjunctivitis Low anterior hairline Short palpebral fissure Ectodermal dysplasia Thick vermilion border Single transverse palmar crease Pectus carinatum Phimosis Bicuspid aortic valve Abnormality of the urinary system Anemia Arthralgia Gastroesophageal reflux Oxycephaly Obesity Midface retrusion Abnormality of the skeletal system Retinopathy Brachydactyly Neurological speech impairment Tetraplegia Weight loss Coarctation of aorta Intellectual disability, profound Pulmonary arterial hypertension Abnormality of the face Lipomas of the central neryous system Abnormal cartilage morphology Linear hyperpigmentation Osteochondrosis Neurodevelopmental abnormality Cerebral cortical atrophy Hyperlordosis Pelvic kidney Recurrent otitis media Genu varum Acanthosis nigricans Paraparesis Abnormal lung morphology Epiphyseal dysplasia Rhizomelia Overgrowth Microphthalmia Epidermal acanthosis Tetraparesis Abnormality of the nervous system Otitis media Confusion Lumbar hyperlordosis Oral cleft Lymphoma Sleep disturbance Leukemia Cerebellar hypoplasia Clonus Apnea Neoplasm of the skeletal system Chorioretinitis Anal stenosis Aortic valve stenosis Sclerocornea Abnormal eyelid morphology Hypoplasia of the iris Capillary hemangioma Abnormality of the skull Eyelid coloboma Dandy-Walker malformation Abnormality of the eyelashes Arachnoid cyst Absent septum pellucidum Dysostosis multiplex Hemiparesis Aphasia Dysphasia Multiple lipomas Muscle stiffness Hamartoma Lipoma Hemiplegia Osteolysis Echolalia Xanthomatosis Somatic mosaicism Interrupted aortic arch Subcortical cerebral atrophy Hemiatrophy Epibulbar dermoid Alopecia areata Tricuspid valve prolapse Abnormal nasolacrimal system morphology Subcutaneous lipoma Abnormal anterior chamber morphology Abnormal aortic morphology Visceral angiomatosis Nevus flammeus Aplasia cutis congenita of scalp Porencephalic cyst Bone cyst Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Hemihypertrophy Skin tags Ectopia pupillae Astrocytoma Craniofacial hyperostosis Tinnitus Spondyloepiphyseal dysplasia Elbow dislocation Abnormal oral mucosa morphology Cleft upper lip Abnormal cardiac septum morphology Microglossia Broad forehead Small for gestational age Prominent nasal bridge Verrucae Blepharophimosis Nasal polyposis Feeding difficulties in infancy Alopecia of scalp Intellectual disability, moderate Pes planus Paranoia Patchy alopecia Upslanted palpebral fissure Hypospadias Abnormality of the gingiva Abnormality of cardiovascular system morphology Abnormality of the dentition Pulmonic stenosis Hypermetropia Long philtrum Hip dysplasia Widely spaced teeth Aortic aneurysm Pyloric stenosis Thickened skin Mutism Narrow palate Heterotopia Status epilepticus Open mouth Hoarse voice Long face Wide intermamillary distance Focal seizures Eczema Acne Poor speech High, narrow palate Delusions Pustule Everted lower lip vermilion Dry skin Tongue nodules White papule Sleep apnea Spinal canal stenosis Upper airway obstruction Central apnea Spinal cord compression Obstructive sleep apnea Myelitis Myeloid leukemia Osteopetrosis Small face Neuroblastoma Disproportionate short stature Behavioral abnormality Megalencephaly Hip contracture Back pain Bowel incontinence Limited elbow extension Disproportionate short-limb short stature Flared metaphysis Short femoral neck Tibial bowing Chronic otitis media Dysuria Communicating hydrocephalus Bilateral intracranial calcifications Iritis Cleft palate Hypertonia Lumbar kyphosis in infancy Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Small foramen magnum Enlarged tonsils Cervical cord compression Myelopathy Obstructive lung disease Hypopnea Cervical myelopathy Central sleep apnea Chronic myelogenous leukemia Thoracolumbar kyphosis Neonatal short-limb short stature Multiple epiphyseal dysplasia Cor pulmonale Hypoxemia Sensory exotropia


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