Delayed speech and language development, and Blue sclerae

Diseases related with Delayed speech and language development and Blue sclerae

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


Top matches:

High match INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN

Intellectual developmental disorder with persistence of fetal hemoglobin is characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF) (summary by Dias et al., 2016).Many of these features overlap with chromosome 2p16.1-p15 deletion syndrome (OMIM ).

INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN Is also known as intellectual developmental disorder with hereditary persistence of fetal hemoglobin

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Strabismus


SOURCES: MONDO OMIM UMLS

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN

High match YOU-HOOVER-FONG SYNDROME; YHFS

YOU-HOOVER-FONG SYNDROME; YHFS Is also known as ;you-hoover-fong syndrome

Related symptoms:

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


SOURCES: UMLS OMIM ORPHANET MONDO

More info about YOU-HOOVER-FONG SYNDROME; YHFS

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; ARCL3B

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Other less relevant matches:

Medium match CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES; CPRF

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.

CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES; CPRF Is also known as ;palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MONDO UMLS OMIM ORPHANET

More info about CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES; CPRF

Medium match ADAMS-OLIVER SYNDROME 2; AOS2

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS OMIM MONDO

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Medium match INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO; IGF1RES

Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO; IGF1RES Is also known as somatomedin, end-organ insensitivity to, somatomedin-c, resistance to, igf-i resistance;resistance to igf-1

Related symptoms:

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


SOURCES: ORPHANET OMIM MONDO UMLS GARD SCTID

More info about INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO; IGF1RES

Medium 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

Medium match CORNELIA DE LANGE SYNDROME 1; CDLS1

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as cdl;cdls, typus degenerativus amstelodamensis, de lange syndrome, brachmann-de lange syndrome;bdls

Related symptoms:

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


SOURCES: NCIT OMIM

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Medium match OSTEOGENESIS IMPERFECTA, TYPE XV; OI15

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.

OSTEOGENESIS IMPERFECTA, TYPE XV; OI15 Is also known as oi, type xv

Related symptoms:

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


SOURCES: DOID OMIM MONDO UMLS

More info about OSTEOGENESIS IMPERFECTA, TYPE XV; OI15

Medium match COLE-CARPENTER SYNDROME 2; CLCRP2

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Pica
  • Hypertelorism
  • Motor delay


SOURCES: MONDO UMLS OMIM

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

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

Symptoms // Phenotype % 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
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Pica Motor delay Seizures Hypoplasia of the corpus callosum Postnatal growth retardation Clinodactyly Pectus excavatum Thin vermilion border Autosomal dominant inheritance Hypertonia Micrognathia Low-set ears Downslanted palpebral fissures Growth delay Cryptorchidism Intrauterine growth retardation Thin upper lip vermilion Prominent forehead Triangular face Inguinal hernia Anteverted nares Hernia Delayed eruption of teeth Frontal bossing Highly arched eyebrow Brachycephaly Severe short stature Macrocephaly Delayed skeletal maturation Cerebellar hypoplasia Ventricular septal defect Failure to thrive Synophrys Depressed nasal bridge Wide nasal bridge Atrial septal defect Flexion contracture Spasticity Joint hypermobility High palate Feeding difficulties Brachydactyly Hearing impairment Syndactyly Joint laxity Autism Retrognathia Congenital onset Scoliosis Thin ribs Epicanthus

Rare Symptoms - Less than 30% cases


Mandibular prognathia Osteopenia Agenesis of corpus callosum Small hand Optic atrophy Hydrocephalus Ventriculomegaly Sporadic Talipes equinovarus Sepsis High myopia Finger clinodactyly Vomiting Single transverse palmar crease Muscular hypotonia of the trunk Malar flattening Patent foramen ovale Lipodystrophy Craniosynostosis Severe failure to thrive Severe intrauterine growth retardation Small for gestational age Perimembranous ventricular septal defect Proptosis Narrow mouth Long philtrum Protruding ear Cognitive impairment Abnormal facial shape Myopia Cutis marmorata Wide anterior fontanel Oligohydramnios Wide intermamillary distance Webbed neck Short distal phalanx of finger Widely spaced teeth Abnormal heart morphology Glaucoma Absent speech Dermal translucency Narrow nasal ridge Everted lower lip vermilion Excessive wrinkled skin Narrow palpebral fissure Cutis laxa Nystagmus Elbow flexion contracture Cleft palate Visual impairment Kyphoscoliosis Autistic behavior Large fontanelles Athetosis Thin skin Underdeveloped nasal alae Hip dislocation Deeply set eye Sparse hair Toe syndactyly Platyspondyly Recurrent fractures Posteriorly rotated ears Ptosis Pyloric stenosis Hypospadias Downturned corners of mouth Hypertrichosis Tapered finger Midface retrusion Oxycephaly Clinodactyly of the 5th finger Hypoglycemia Wrist flexion contracture Telecanthus Polar cataract Abnormal corpus callosum morphology Capsular cataract Premature skin wrinkling Conductive hearing impairment Generalized joint laxity Recurrent sinopulmonary infections Proteinuria Delayed closure of the anterior fontanelle High pitched voice Overlapping fingers Aggressive behavior Wide cranial sutures Hypertrophic cardiomyopathy Respiratory tract infection Reduced bone mineral density Large earlobe Abnormality of the pinna Microretrognathia Lambdoidal craniosynostosis Prominent nasal bridge Cerebellar agenesis Pallor Cleft upper lip Micromelia Gastroesophageal reflux Thrombocytopenia Hyperactivity Coronal craniosynostosis Hypoargininemia Prominent veins on trunk Hyperprolinemia Prominent superficial blood vessels Fragmented elastic fibers in the dermis Small, conical teeth Prominent nasolabial fold Abnormal fundus fluorescein angiography Decreased skull ossification Sensorineural hearing impairment Hypoplastic aortic arch Anemia Neoplasm Tics Abnormality of the genital system Renal cyst Turricephaly Short neck Fever Persistent left superior vena cava Intellectual disability, severe Cardiomyopathy Corneal arcus Talipes calcaneovalgus Abnormality of the skeletal system Calcaneovalgus deformity Behavioral abnormality Premature rupture of membranes Pneumonia Pulmonic stenosis Projectile vomiting Thick eyebrow Abnormality of digit Thick upper lip vermilion Abnormality of the gastrointestinal tract Optic nerve coloboma Oligodactyly Hypoplastic labia majora Hiatus hernia Progeroid facial appearance Esophagitis Ectrodactyly Weak cry Hypoplastic nipples Hypopituitarism Dislocated radial head Tricuspid regurgitation Duplication of internal organs Malrotation of colon Opisthotonus Phocomelia Esophageal stenosis Hypertropia Otitis media with effusion Absent hand Curly eyelashes Supernumerary ribs Peters anomaly Hypoplastic radial head Volvulus Hand oligodactyly Short sternum Aspiration pneumonia Cavernous hemangioma Panhypopituitarism Recurrent hypoglycemia Reduced renal corticomedullary differentiation Self-injurious behavior Pulmonary hypoplasia Vesicoureteral reflux Low posterior hairline Renal hypoplasia Dysplastic tricuspid valve Spontaneous abortion Sleep disturbance Hypoplastic male external genitalia Astigmatism Congenital diaphragmatic hernia Arnold-Chiari malformation Hypoplasia of the pons Vertebral compression fractures Hirsutism Microcornea High, narrow palate Abnormality of the umbilicus Otitis media Limited elbow extension Abnormality of the urinary system 2-3 toe syndactyly Clubbing Ectopic kidney Proximal placement of thumb Short middle phalanx of finger Incoordination Deep philtrum Choanal atresia Torticollis Short metatarsal Aspiration Hypoplasia of the radius Hemangioma Long eyelashes Recurrent urinary tract infections Neurodevelopmental delay Truncal obesity Subcapsular cataract Gliosis Nevus Edema Cerebral atrophy Microphthalmia Dilatation Depressivity Polyhydramnios Alopecia Abnormality of the nervous system Congenital cataract Bulbous nose Polymicrogyria Retinal detachment Short foot Small nail Cerebral white matter hypoplasia Cerebellar cyst Abdominal wall defect Retrocerebellar cyst Retinal fold Periventricular leukomalacia Aplasia cutis congenita of scalp Adactyly Corpus callosum atrophy Lymphedema Aplasia cutis congenita Mania Short finger Dermal atrophy Cerebral palsy Low anterior hairline Narrow nasal tip Tethered cord Cutis marmorata telangiectatica congenita Cortical visual impairment Blepharophimosis Pes planus Osteoporosis Coma Ankyloglossia Rotary nystagmus Chorea Congenital glaucoma Abnormality of movement Pectus carinatum Ataxia Cupped ear Overfolded helix Cerebellar atrophy Fine hair Constipation Chordee Bilateral ptosis Lower limb hypertonia Delayed CNS myelination Syringomyelia Central hypotonia Spinal canal stenosis Supernumerary nipple Hypoplastic toenails Clonus Oculomotor apraxia Abnormal vertebral morphology Exotropia Short thumb Apraxia Delayed myelination Falciform retinal fold Retinal nonattachment Mild short stature Difficulty walking Bilateral sensorineural hearing impairment Hypotelorism Scarring Abnormality of skin pigmentation Distal amyotrophy Corneal opacity Umbilical hernia Decreased fetal movement High forehead Macrotia Respiratory failure Patent ductus arteriosus Kyphosis Respiratory insufficiency Progressive cerebellar ataxia Cerebellar vermis hypoplasia Skeletal muscle atrophy Adducted thumb Prematurely aged appearance Nuclear cataract Multiple joint contractures Infantile muscular hypotonia Decreased muscle mass Poor suck Hyperextensible skin Progressive microcephaly Nasal speech Hyperammonemia Coxa vara Wormian bones Congenital hip dislocation Opacification of the corneal stroma Tremor Hyperreflexia Small finger Lymphoma Accelerated skeletal maturation Decreased body weight Inability to walk Epidermal acanthosis Sparse scalp hair Type II diabetes mellitus Broad nasal tip Sandal gap Short palm Smooth philtrum Anxiety Diabetes mellitus Upslanted palpebral fissure Obesity Acanthosis nigricans Radial deviation of finger Cataract Broad finger Muscular hypotonia Increased serum insulin-like growth factor 1 Hypoplastic facial bones Burkitt lymphoma Prominent scalp veins Rieger anomaly Esodeviation Delayed cranial suture closure Abnormality of the rib cage Maternal diabetes Small face Agitation Reduced subcutaneous adipose tissue Pterygium Fractures of the long bones


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