Delayed speech and language development, and Inguinal hernia
Diseases related with Delayed speech and language development and Inguinal hernia
In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Inguinal hernia that can help you solving undiagnosed cases.
Top matches:
High match CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD
CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015).
Related symptoms:
- Autosomal dominant inheritance
- Seizures
- Global developmental delay
- Generalized hypotonia
- Scoliosis
More info about CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD
High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B
De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}.
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B Is also known as de barsy syndrome b;pycr1 deficiency; pyrroline-5-carboxylate reductase 1 deficiency
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Hypertelorism
- Cryptorchidism
- Flexion contracture
SOURCES: OMIM ORPHANET MONDO DOID UMLS
More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3BHigh match CHROMOSOME 15q14 DELETION SYNDROME
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.
CHROMOSOME 15q14 DELETION SYNDROME Is also known as ;del(15)(q14); monosomy 15q14
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
SOURCES: UMLS OMIM SCTID MONDO ORPHANET
More info about CHROMOSOME 15q14 DELETION SYNDROME
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Other less relevant matches:
High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D
Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).
Related symptoms:
- Seizures
- Generalized hypotonia
- Microcephaly
- Hypertelorism
- Strabismus
More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D
High match SIALURIA
Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.
SIALURIA Is also known as sialuria, french type;sialuria, french type
Related symptoms:
- Autosomal dominant inheritance
- Seizures
- Global developmental delay
- Generalized hypotonia
- Scoliosis
SOURCES: OMIM GARD MONDO ORPHANET DOID
More info about SIALURIAMedium match SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS
Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016).
SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS Is also known as amish infantile epilepsy syndrome, epilepsy syndrome, infantile-onset symptomatic, gm3 synthase deficiency, salt and pepper mental retardation syndrome;infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
SOURCES: OMIM MONDO UMLS ORPHANET SCTID GARD
More info about SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRSMedium match ASPARTYLGLUCOSAMINURIA
Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).
ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Scoliosis
- Hypertelorism
- Abnormal facial shape
More info about ASPARTYLGLUCOSAMINURIA
Medium match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE Is also known as arcl2, debré type; arcl2, classic type; autosomal recessive cutis laxa type 2, debré type
Related symptoms:
- Seizures
- Global developmental delay
- Short stature
- Hypertelorism
- Strabismus
More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE
Medium match OSTEOGLOPHONIC DYSPLASIA; OGD
Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.
OSTEOGLOPHONIC DYSPLASIA; OGD Is also known as osteoglophonic dwarfism;osteoglophonic dwarfism
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Pica
- Scoliosis
- Hypertelorism
SOURCES: OMIM SCTID GARD UMLS MONDO ORPHANET MESH
More info about OSTEOGLOPHONIC DYSPLASIA; OGDMedium match GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS
Greig cephalopolysyndactyly syndrome is characterized by frontal bossing, scaphocephaly, and hypertelorism associated with pre- and postaxial polydactyly and variable syndactyly. The phenotype shows variable expressivity and can also include craniosynostosis. Affected individuals usually have normal psychomotor development (summary by Gorlin et al., 2001).
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS Is also known as polysyndactyly with peculiar skull shape;gcps
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Hypertelorism
SOURCES: NCIT ORPHANET UMLS OMIM DOID MONDO MESH GARD SCTID
More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPSTop 5 symptoms//phenotypes associated to Delayed speech and language development and Inguinal hernia
| Symptoms // Phenotype | % cases |
|---|---|
| Seizures | Common - Between 50% and 80% cases |
| Hypertelorism | Common - Between 50% and 80% cases |
| Intellectual disability | Common - Between 50% and 80% cases |
| Global developmental delay | Common - Between 50% and 80% cases |
| Scoliosis | Common - Between 50% and 80% cases |
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Other less frequent symptoms
Patients with Delayed speech and language development and Inguinal hernia. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Long philtrum Autosomal dominant inheritance Generalized hypotonia Wide nasal bridge Failure to thrive Cryptorchidism Low-set ears Hernia Flexion contracture Downslanted palpebral fissures Abnormal facial shape Frontal bossing Smooth philtrum Hepatomegaly Motor delay Microcephaly Mandibular prognathia Cutis laxa High palate Macroglossia Coarse facial features Short nose Umbilical hernia
Rare Symptoms - Less than 30% cases
Ventricular septal defect Craniosynostosis Poor speech Narrow palpebral fissure Anteverted nares Excessive wrinkled skin Short stature Camptodactyly Hypospadias Tics Strabismus Athetosis Abnormality of the dentition High forehead Midface retrusion Congenital onset Respiratory distress Feeding difficulties Polymicrogyria Protruding ear Convex nasal ridge Delayed skeletal maturation Pointed chin Atrial septal defect Malar flattening Developmental regression Short neck Lipodystrophy Oxycephaly Gingival overgrowth Intellectual disability, mild Prominent nasolabial fold Splenomegaly Autosomal recessive inheritance Micrognathia Carious teeth Macrocephaly Posteriorly rotated ears Elbow flexion contracture Sparse hair Hip dislocation Prominent forehead Pes planus Talipes equinovarus Cognitive impairment Hepatosplenomegaly Deeply set eye Thick hair Psychomotor deterioration Abnormal isoelectric focusing of serum transferrin Prominent veins on trunk Abnormal subcutaneous fat tissue distribution Abnormality of the intrinsic pathway Severe short stature Fragmented elastic fibers in the dermis Joint stiffness Short foot Short palm Thick cerebral cortex Subretinal pigment epithelium hemorrhage Abnormal apolipoprotein level Pica Redundant neck skin Depressivity Platyspondyly Depressed nasal bridge Brachydactyly Sleep disturbance Intellectual disability, profound Microtia Abnormal cortical bone morphology Spasticity Aspartylglucosaminuria Anterior beaking of lumbar vertebrae Abnormality of amino acid metabolism Vascular skin abnormality Large face Beaking of vertebral bodies Pectus carinatum Abnormality of the ulna Macroorchidism Malabsorption Thickened calvaria Chronic otitis media Abnormal vertebral morphology Dyskinesia Intrauterine growth retardation Short metacarpal Generalized joint laxity Congenital hip dislocation Delayed closure of the anterior fontanelle Infantile muscular hypotonia Decreased muscle mass Redundant skin Coarse hair Lissencephaly Progressive microcephaly Neurological speech impairment Dandy-Walker malformation Thick vermilion border Pachygyria High myopia Broad nasal tip Postnatal growth retardation Dementia Cerebellar hypoplasia Hypoplastic scapulae Abnormal form of the vertebral bodies Accelerated skeletal maturation Hyperglycemia Broad hallux Preaxial hand polydactyly Cutaneous syndactyly Trigonocephaly Hand polydactyly Joint contracture of the hand Delayed cranial suture closure Broad thumb Confusion Congenital diaphragmatic hernia Postaxial hand polydactyly Postaxial polydactyly Postural instability Hirsutism Preaxial polydactyly Partial agenesis of the corpus callosum Finger syndactyly Cutaneous syndactyly of toes Duplication of the distal phalanx of hand 3-4 finger syndactyly Metopic synostosis Partial duplication of thumb phalanx Camptodactyly of toe Abnormality of muscle fibers Medulloblastoma Large for gestational age Preaxial foot polydactyly Broad hallux phalanx Abnormality of digit Scaphocephaly Postaxial foot polydactyly Foot polydactyly Cutaneous finger syndactyly Toe syndactyly Telecanthus Limb undergrowth Hypoplastic toenails Shallow orbits Abnormality of the clavicle Hypophosphatemia Broad palm Increased susceptibility to fractures Failure to thrive in infancy Metaphyseal dysplasia Spondyloepimetaphyseal dysplasia Reduced number of teeth Short metatarsal Plagiocephaly Rhizomelia Bowing of the long bones Short phalanx of finger Choanal atresia Broad foot Cloverleaf skull Polydactyly Unerupted tooth Abnormal heart morphology Agenesis of corpus callosum Syndactyly Hydrocephalus Nevus Multiple unerupted teeth Pseudoarthrosis Renal phosphate wasting Broad metatarsal Broad metacarpals Broad phalanx Abnormal bone ossification Nasal obstruction Abnormality of the nasopharynx Chordee Arthritis Vomiting Recurrent respiratory infections Myopathy Abnormal cardiac septum morphology Cleft lip Bulbous nose Long face Everted lower lip vermilion Highly arched eyebrow Narrow forehead Laryngomalacia Tented upper lip vermilion Acne Facial cleft Biparietal narrowing Everted upper lip vermilion Cataract Ventriculomegaly Short philtrum Sepsis Right bundle branch block Bundle branch block Disproportionate tall stature Focal seizures with impairment of consciousness or awareness Sloping forehead Focal seizures Gliosis Hypoplasia of the corpus callosum Triangular face Micropenis Retrognathia Pneumonia Congestive heart failure Cardiomyopathy Prominent nasal bridge Intellectual disability, moderate Wide nasal base Adducted thumb Enlarged naris Breathing dysregulation Short columella Hip contracture Congenital contracture Neonatal respiratory distress Knee flexion contracture Coma Full cheeks Abnormality of the foot Gastroesophageal reflux Cerebral atrophy Cerebellar atrophy Respiratory insufficiency Pursed lips Osteoporosis Autism Pyloric stenosis Immunodeficiency Kyphosis Cleft palate Dermal translucency Narrow nasal ridge Congenital glaucoma Large fontanelles Glaucoma Fine hair Thin skin Blue sclerae Underdeveloped nasal alae Thin vermilion border Blepharophimosis Entropion Cavum septum pellucidum Behavioral abnormality Visual loss Abnormality of skin pigmentation Retinal degeneration Pallor Irritability Clonus Feeding difficulties in infancy Absent speech Tetraparesis Myoclonus Cerebral cortical atrophy Blindness Hypertonia Intellectual disability, severe Optic atrophy Increased serum lactate Generalized tonic-clonic seizures Muscular hypotonia Hypermelanotic macule Developmental stagnation at onset of seizures Hyporeflexia of upper limbs Multifocal epileptiform discharges Developmental stagnation Lower limb hyperreflexia Abnormal retinal morphology Global brain atrophy Cortical visual impairment Macule Inability to walk Status epilepticus Generalized seizures Progressive neurologic deterioration Choreoathetosis Visual impairment Nystagmus Narrow naris Attention deficit hyperactivity disorder Generalized hirsutism Memory impairment Low posterior hairline High, narrow palate Joint hypermobility Synophrys Thin upper lip vermilion Cholelithiasis Abdominal pain Elevated hepatic transaminase Hyperactivity Abnormality of metabolism/homeostasis Pain Epicanthus Hoarse voice Sleep apnea Hearing impairment Prolonged partial thromboplastin time Expressive language delay Spinal deformities Long hallux Abnormality of the mitochondrion Prolonged prothrombin time Periorbital fullness Upper airway obstruction 2-3 toe syndactyly Dysostosis multiplex Hyperkinesis Protuberant abdomen Episodic abdominal pain Hypoplastic nipples Thoracic hypoplasia 1-3 toe syndactyly
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