Delayed speech and language development, and Blepharophimosis

Diseases related with Delayed speech and language development and Blepharophimosis

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


Top matches:

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11

X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.

MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11 Is also known as shashi x-linked mental retardation syndrome;smrxs, mental retardation, x-linked, shashi type;syndromic x-linked intellectual disability type 11

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: UMLS OMIM MONDO ORPHANET SCTID GARD MESH DOID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48; MRT48

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48; MRT48 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Intellectual disability, severe
  • Tremor


SOURCES: OMIM ORPHANET UMLS MONDO

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48; MRT48

Medium 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 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

Related symptoms:

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


SOURCES: UMLS MONDO OMIM MESH

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: MONDO EFO UMLS OMIM

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Medium match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS MONDO OMIM

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Medium match PIERPONT SYNDROME; PRPTS

Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.

PIERPONT SYNDROME; PRPTS Is also known as plantar lipomatosis, unusual facies, and developmental delay;plantar lipomatosis-facial dysmorphism-developmental delay syndrome; plantar lipomatosis-unusual facies-developmental delay syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MONDO UMLS MESH

More info about PIERPONT SYNDROME; PRPTS

Medium match CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE

The Toriello-Carey syndrome is a multiple congenital anomaly disorder with variable systemic manifestations, most commonly including mental retardation, agenesis of the corpus callosum, postnatal growth delay, cardiac defects, usually septal defects, distal limb defects, and urogenital anomalies in affected males. Patients have facial dysmorphic features, micrognathia, including full cheeks, hypertelorism, flattened nasal bridge, anteverted nares, and short neck. Not all features are found in all patients and some patients may have additional features such as anal anomalies or hernias (review by Toriello et al., 2003).

CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE Is also known as toriello-carey syndrome;corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Related symptoms:

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


SOURCES: GARD ORPHANET OMIM SCTID MONDO MESH UMLS

More info about CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE

Medium match CHROMOSOME 15q13.3 DELETION SYNDROME

Heterozygous deletion of chromosome 15q13.3 is associated with a highly variable phenotype, even within families segregating the same deletion. Individuals with the deletion may have mild to moderate mental retardation or learning difficulties, or may have no cognitive deficits. Some individuals have epilepsy. Various dysmorphic features have been described, but there is no consistent or recognizable phenotype (review by van Bon et al., 2009). Patients with homozygous deletions in this region have severe neurodevelopmental problems, with epileptic encephalopathy, hypotonia, and poor growth (Endris et al., 2010).

CHROMOSOME 15q13.3 DELETION SYNDROME Is also known as chromosome 15q13.3 microdeletion syndrome;del(15)(q13.3); monosomy 15q13.3

Related symptoms:

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


SOURCES: ORPHANET GARD OMIM UMLS MONDO MESH DOID SCTID

More info about CHROMOSOME 15q13.3 DELETION SYNDROME

Medium match NICOLAIDES-BARAITSER SYNDROME; NCBRS

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

NICOLAIDES-BARAITSER SYNDROME; NCBRS Is also known as sparse hair and mental retardation, nbs;nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: SCTID ORPHANET MESH OMIM MONDO GARD UMLS

More info about NICOLAIDES-BARAITSER SYNDROME; NCBRS

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Narrow palpebral fissure Anteverted nares Autosomal dominant inheritance Pica Abnormal facial shape Abnormality of the pinna Macrotia Autosomal recessive inheritance Intellectual disability, severe Short palm Strabismus Downslanted palpebral fissures Telecanthus Hernia Posteriorly rotated ears Sparse hair Abnormality of cardiovascular system morphology Brachydactyly Wide nasal bridge Smooth philtrum Short philtrum Synophrys Phimosis Wide intermamillary distance Failure to thrive Upslanted palpebral fissure Epicanthus Feeding difficulties Short neck Growth delay Short palpebral fissure Thick eyebrow Everted lower lip vermilion Obesity Specific learning disability Poor speech Long philtrum Absent speech Hearing impairment Aggressive behavior

Rare Symptoms - Less than 30% cases


Full cheeks Eczema Brachycephaly Eclabion Short nose Depressed nasal bridge Thick upper lip vermilion Small for gestational age Widely spaced teeth Scoliosis Ptosis Milia Clinodactyly Intrauterine growth retardation Downturned corners of mouth Cleft palate Motor delay Micrognathia Hypospadias Midface retrusion Bulbous nose Intellectual disability, moderate Flat face Thick lower lip vermilion Tapered finger Microcornea Coarse facial features Wide mouth Narrow mouth Agenesis of corpus callosum Hypoplasia of the corpus callosum Overfolded helix Wide nose Postnatal growth retardation Deep palmar crease Abnormal heart morphology Pes planus Deeply set eye Muscular hypotonia Thin vermilion border Underdeveloped nasal alae Athetosis Large fontanelles Unilateral narrow palpebral fissure Muscular hypotonia of the trunk Excessive wrinkled skin Broad philtrum Microphthalmia Hypertonia Abnormality of the larynx Retinopathy Frontal bossing Laryngeal hypoplasia Cognitive impairment Postural instability Protruding ear Anxiety Wide anterior fontanel Nevus Pulmonic stenosis Narrow chest Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Macrocephaly Respiratory failure Cerebellar vermis hypoplasia Atrial septal defect Tracheal stenosis Tracheomalacia Cleft soft palate Encephalopathy Redundant neck skin Pierre-Robin sequence Anteriorly placed anus Abnormality of the genital system Clinodactyly of the 5th finger Hyperactivity Thin upper lip vermilion Anotia Behavioral abnormality Autism Proximal placement of thumb EEG abnormality Intellectual disability, mild Neonatal respiratory distress Hypoplastic left heart Flexion contracture Severe global developmental delay Aphasia Short phalanx of finger Low anterior hairline Long eyelashes Accelerated skeletal maturation Joint dislocation Absence seizures Sandal gap Abnormality of the metacarpal bones Short metatarsal Drooling Mutism Dysphasia Absent eyebrow Hypotrichosis Protruding tongue Epileptic spasms Echolalia Abnormality of finger Narrow nasal bridge Abnormal hair pattern Abnormality of the testis Wide nasal base Broad distal phalanx of finger Thick nasal alae Clubbing of toes Curly eyelashes Prominent interphalangeal joints Status epilepticus Abnormality of epiphysis morphology Autistic behavior Short 4th metacarpal Dental malocclusion Narrow forehead Epileptic encephalopathy Choreoathetosis Deep philtrum Finger clinodactyly Melanocytic nevus Schizophrenia Triphalangeal thumb Retrognathia Obsessive-compulsive behavior Bipolar affective disorder Short attention span Sparse scalp hair Prominent nasal tip Numerous nevi Increased head circumference Abnormality of the palpebral fissures Tics Delayed skeletal maturation Alopecia Severe short stature Triangular face Highly arched eyebrow High, narrow palate Short metacarpal Broad nasal tip Impulsivity Infantile muscular hypotonia Cerebellar hypoplasia Progressive microcephaly Elevated serum creatine phosphokinase Pes cavus Prominent nasal bridge Mandibular prognathia Long face Esotropia Prominent nose Hypotelorism Narrow face Short chin Small hand Brisk reflexes Achilles tendon contracture Tremor Periorbital fullness Macroorchidism Palpebral edema Prominent supraorbital ridges Bilateral sensorineural hearing impairment Edema Talipes equinovarus Abnormality of the dentition Hyperreflexia Gastroesophageal reflux Fine hair Inguinal hernia Kinetic tremor Self-mutilation Osteoporosis Glaucoma Prominent forehead Hand tremor Hip dislocation Blue sclerae Thin skin Elbow flexion contracture Dysarthria Cutis laxa Pyloric stenosis Congenital glaucoma Narrow nasal ridge Dermal translucency Narrow palate Inability to walk Waddling gait Myopathy Spasticity Congenital onset Camptodactyly Syndactyly Large fleshy ears Flat occiput Coma Multiple lipomas Broad palm Broad foot Pendular nystagmus High anterior hairline Broad face Deep plantar creases Long upper lip Wide nasal ridge Short foot Prominent median palatal raphe Abnormal peripheral nervous system morphology Hypoplastic areola Small scrotum Sensorineural hearing impairment Ventricular septal defect Hydrocephalus Cardiomyopathy Respiratory distress Patent ductus arteriosus Short finger Joint laxity Broad forehead Pectus excavatum Abnormality of the cerebral white matter Joint hypermobility Round face Language impairment Bilateral ptosis Vertebral fusion Unilateral cryptorchidism Abnormal myelination Round ear Low-set ears Osteopenia High forehead Microtia Carious teeth Microdontia X-linked recessive inheritance Scrotal hypoplasia Broad neck Ureterocele Nystagmus Malar flattening Micropenis Prominent proximal interphalangeal joints



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