Delayed speech and language development, and Facial asymmetry

Diseases related with Delayed speech and language development and Facial asymmetry

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


Top matches:

Medium match OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Delayed speech and language development
  • Obesity
  • Severe global developmental delay


SOURCES: MESH MONDO UMLS OMIM

More info about OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD

Medium match STANKIEWICZ-ISIDOR SYNDROME; STISS

Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: UMLS OMIM

More info about STANKIEWICZ-ISIDOR SYNDROME; STISS

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 Is also known as ;

Related symptoms:

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


SOURCES: ORPHANET DOID OMIM MONDO UMLS

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31

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Other less relevant matches:

Medium match GABRIELE-DE VRIES SYNDROME; GADEVS

Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME; GADEVS Is also known as ;yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM UMLS MONDO ORPHANET

More info about GABRIELE-DE VRIES SYNDROME; GADEVS

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

Related symptoms:

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


SOURCES: DOID MONDO NCIT MESH UMLS OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

Low match LAMB-SHAFFER SYNDROME; LAMSHF

Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015).

Related symptoms:

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


SOURCES: UMLS OMIM

More info about LAMB-SHAFFER SYNDROME; LAMSHF

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR Is also known as snyder-robinson mental retardation syndrome;srs;snyder-robinson syndrome

Related symptoms:

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


SOURCES: SCTID MESH MONDO UMLS ORPHANET OMIM GARD DOID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

Low match GILLESPIE SYNDROME; GLSP

Gillespie syndrome is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).

GILLESPIE SYNDROME; GLSP Is also known as aniridia, cerebellar ataxia, and mental retardation;gillespie syndrome

Related symptoms:

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


SOURCES: OMIM MONDO ORPHANET UMLS MESH GARD SCTID

More info about GILLESPIE SYNDROME; GLSP

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44

Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44 Is also known as ;

Related symptoms:

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


SOURCES: DOID MONDO UMLS OMIM ORPHANET

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44

Low 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

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Pica Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Autosomal dominant inheritance

Common Symptoms - More than 50% cases


Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases


High palate Downslanted palpebral fissures Strabismus Absent speech Retrognathia High forehead Abnormal facial shape Broad forehead Behavioral abnormality Micrognathia Epicanthus Visual impairment Dental crowding Cryptorchidism Motor delay Low anterior hairline Frontal bossing Scoliosis Mandibular prognathia Anxiety Open mouth Clinodactyly Gait ataxia Short stature Long fingers Thin upper lip vermilion Short nose Unsteady gait Myopia Microcephaly Autism Synophrys Bulbous nose Nystagmus Hypertelorism

Rare Symptoms - Less than 30% cases


Sparse eyebrow Focal seizures with impairment of consciousness or awareness Posteriorly rotated ears Ataxia Malar flattening Muscular hypotonia Pointed chin Abnormality of the skeletal system Thick lower lip vermilion Language impairment Cerebral atrophy Kyphoscoliosis Low-set ears Long hallux Depressed nasal bridge Highly arched eyebrow Disproportionate tall stature Aggressive behavior Protruding ear Short palm Optic atrophy Hypermetropia Thick eyebrow Pectus carinatum Short foot Pes planus Tremor Anteverted nares Dysarthria Horizontal nystagmus Delayed myelination Myoclonus Upslanted palpebral fissure Cognitive impairment Encephalopathy Hypoplasia of the corpus callosum Ventriculomegaly Cortical visual impairment Epileptic encephalopathy Prominent nose Abnormal cardiac septum morphology Abnormality of movement Hearing impairment High, narrow palate Polyphagia Stereotypy Esotropia Hyperconvex nail Bilateral ptosis Pectus excavatum Overlapping toe Broad-based gait Asymmetry of the ears Postural tremor Nevus Mask-like facies Narrow face Hyperpigmentation of the skin Slurred speech Narrow palm Cerebellar atrophy Intellectual disability, profound Hearing abnormality Cataract Speech apraxia Aniridia Hypoplasia of the fovea Hypoplasia of the iris Tall stature High myopia Autosomal recessive inheritance Nasal speech Intellectual disability, mild Epileptic spasms Muscular hypotonia of the trunk Reduced visual acuity Small earlobe Hyperextensibility of the finger joints Neurological speech impairment Congenital cataract Corneal opacity Slender build Cerebral cortical atrophy Coloboma Focal motor seizures Long palm Abnormal cerebellum morphology Slender finger Cerebellar hypoplasia Hypopigmentation of the skin Apraxia Decreased muscle mass Involuntary movements Pulmonic stenosis Abnormality of the hand Broad distal phalanx of finger Renal hypoplasia/aplasia Hydronephrosis Nail dystrophy Renal hypoplasia Oligohydramnios Bilateral sensorineural hearing impairment Stage 5 chronic kidney disease Large fontanelles Small nail Sparse and thin eyebrow Hypertrichosis Recurrent urinary tract infections Multicystic kidney dysplasia Schizophrenia Diabetes mellitus Unilateral renal agenesis Shawl scrotum Ovarian cyst Upper limb undergrowth Aplasia of the uterus Long toe Ureterocele Urethral stenosis Subcortical cerebral atrophy Hypoplasia of the bladder Abnormality of upper lip Aplasia of the vagina Ureteral atresia Elevated hepatic transaminase Renal insufficiency Scanning speech Short distal phalanx of finger Abnormality of the pulmonary artery Mydriasis Craniofacial asymmetry Frontal cortical atrophy Hyperreflexia Brachydactyly Dysphagia Long philtrum Kyphosis Recurrent infections Macrotia Hyperactivity Attention deficit hyperactivity disorder Tapered finger Aplasia of the 1st metacarpal Hypodontia Poor speech Thick vermilion border Short phalanx of finger Syncope Spontaneous abortion 2-3 toe syndactyly Obsessive-compulsive behavior Absent radius Mild global developmental delay Ventricular extrasystoles Hyperacusis Slanting of the palpebral fissure Generalized myoclonic seizures Mitral regurgitation Wide intermamillary distance Vomiting Craniosynostosis Abnormality of the cerebral white matter Gliosis Waddling gait Esophageal atresia Periorbital fullness Lacrimal duct stenosis Mild intrauterine growth retardation Fever Intellectual disability, severe Clinodactyly of the 5th finger Dystonia Coarse facial features Gastroesophageal reflux EEG abnormality Feeding difficulties in infancy Wide mouth Postnatal growth retardation Microtia Autistic behavior Everted lower lip vermilion Downturned corners of mouth Astigmatism Hypothyroidism Abnormality of the dentition Sleep disturbance Respiratory insufficiency Obesity Severe global developmental delay Overweight Anterior plagiocephaly Hypospadias Patent ductus arteriosus Micropenis Abnormality of the kidney Pineal cyst Edema Prominent forehead Intrauterine growth retardation Telecanthus Neonatal hypotonia Apnea Dolichocephaly CNS hypomyelination Deep philtrum Precocious puberty Myopathic facies Facial hypotonia Neurodevelopmental delay Growth delay Small hand Focal seizures Webbed neck Brachycephaly Mild myopia Hypoplastic helices Vertebral clefting Laryngotracheomalacia Severe expressive language delay Cleft palate Gait disturbance Talipes equinovarus X-linked recessive inheritance Osteoporosis Narrow mouth Ureteral stenosis Intellectual disability, moderate Abnormality of the pinna Short philtrum Clonus Prominent nasal bridge Camptodactyly Smooth philtrum Arachnodactyly Recurrent fractures Bifid uvula Postural instability Expressive language delay Thoracic kyphoscoliosis Febrile seizures Abnormality of lower lip Absence seizures Sandal gap Widely spaced teeth Finger clinodactyly Tented upper lip vermilion Short chin Cupped ear Infantile muscular hypotonia Self-injurious behavior Short attention span Hemifacial hypoplasia Wide nasal bridge Hyperplasia of the maxilla Constipation Hyperlordosis Renal agenesis Lumbar hyperlordosis Exotropia Clumsiness Narrow palate Optic nerve hypoplasia Tracheomalacia Small face Maternal diabetes Pancreatic aplasia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Tetralogy of Fallot, related diseases and genetic alterations Feeding difficulties and Camptodactyly of finger, related diseases and genetic alterations