Motor delay, and Broad forehead

Diseases related with Motor delay and Broad forehead

In the following list you will find some of the most common rare diseases related to Motor delay and Broad forehead that can help you solving undiagnosed cases.


Top matches:

High match INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME


Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

High match SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME


Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

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Other less relevant matches:

High match NOONAN SYNDROME 6; NS6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

High match OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18


Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18

High 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:

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


SOURCES: OMIM MENDELIAN

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

High match OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13


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 cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.

OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13 Is also known as oi, type xiii

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Pain


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13

High match X-LINKED CREATINE TRANSPORTER DEFICIENCY


X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

High match CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR


CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR Is also known as cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR

High match 5Q14.3 MICRODELETION SYNDROME


The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3|del(5)(q14.3)|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 5Q14.3 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Motor delay and Broad forehead

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Motor delay and Broad forehead. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Downslanted palpebral fissures Feeding difficulties Hypertelorism Hyperactivity Microcephaly Deeply set eye Abnormal facial shape Poor speech Wide nasal bridge Seizures Growth delay Language impairment Joint hypermobility Hypermetropia Intellectual disability, severe Long palpebral fissure Depressed nasal bridge Hypoplasia of the corpus callosum Ptosis Low-set ears Gastroesophageal reflux Short philtrum Autistic behavior Delayed myelination Stereotypy Attention deficit hyperactivity disorder Macrocephaly Delayed gross motor development Failure to thrive Open mouth

Rare Symptoms - Less than 30% cases


Edema High forehead Epicanthus Behavioral abnormality Bilateral ptosis Short nose Cryptorchidism Hernia Umbilical hernia Joint laxity Arachnodactyly Hearing impairment Relative macrocephaly Blue sclerae Recurrent fractures Self-mutilation Long eyelashes Wormian bones Tented upper lip vermilion Vertebral compression fractures Talipes equinovarus Anteverted nares Long philtrum Downturned corners of mouth Upslanted palpebral fissure Protruding ear Muscular hypotonia Absent speech Autism Abnormal heart morphology Aggressive behavior Cognitive impairment Broad nasal tip Speech apraxia Irritability Generalized myoclonic seizures Large forehead Intellectual disability, moderate Long face Pain Neonatal hypotonia Sparse hair Delayed ability to walk Wide mouth Blepharophimosis Atrial septal defect Ventricular septal defect Abnormality of the skeletal system Abnormality of nervous system morphology Syndactyly Abnormality of cardiovascular system morphology Agenesis of cerebellar vermis Cleft lip Abnormal cardiac septum morphology Frontal cortical atrophy Cleft upper lip Oral cleft Highly arched eyebrow Full cheeks Cleft palate Abnormality of creatine metabolism Underfolded superior helices External ophthalmoplegia Ophthalmoplegia Joint hyperflexibility Parkinsonism Chorea Choreoathetosis Clumsiness Aganglionic megacolon Tall stature Exotropia Narrow face Cachexia Poor hand-eye coordination Redundant skin Mask-like facies Athetosis Myopathic facies Chronic constipation Ileus Impaired social interactions Urethral stenosis Duodenal ulcer Abnormality of the periventricular white matter Large earlobe Sandal gap Periventricular leukomalacia Abnormal corpus callosum morphology Macrotia EEG abnormality Coloboma Generalized tonic-clonic seizures Feeding difficulties in infancy Toe syndactyly Thick eyebrow Inability to walk Short chin Encephalopathy Hemiclonic seizures Heterotopia Iris coloboma Happy demeanor Broad-based gait Epileptic encephalopathy Everted lower lip vermilion Short foot Febrile seizures Myoclonus Dilatation Poor eye contact Optic nerve hypoplasia Narrow forehead Infantile spasms Coarctation of aorta Broad thumb Convex nasal ridge Cupped ear Cutaneous syndactyly Sparse eyebrow Trigonocephaly 2-3 toe syndactyly Ventriculomegaly Plagiocephaly Absence seizures Broad hallux Short 5th finger Achalasia Short 2nd finger Laterally extended eyebrow Oral aversion Brachydactyly High anterior hairline Abnormality of the cerebral white matter Muscular hypotonia of the trunk Growth hormone deficiency Myopia Cardiomyopathy Intellectual disability, mild Hyperkeratosis Hypertrophic cardiomyopathy Leukemia Pulmonic stenosis Webbed neck Cafe-au-lait spot Inappropriate laughter Curly hair Broad neck Asymmetry of the thorax Long eyebrows Juvenile myelomonocytic leukemia Micrognathia Dysphagia Abnormality of the dentition Pneumonia Sensorineural hearing impairment Long toe Disproportionate tall stature Hyperlordosis Nystagmus Obesity Prominent forehead Retrognathia Anxiety Apraxia Drooling Tremor Frontal bossing Microtia Tics Neurological speech impairment Focal-onset seizure Postnatal macrocephaly Thin upper lip vermilion Astigmatism Fine hair Narrow palpebral fissure Long fingers Fair hair Bowing of the long bones Femoral bowing Mandibular prognathia Ataxia Increased bone mineral density Increased susceptibility to fractures Dislocated radial head Osteomalacia Enuresis Dentinogenesis imperfecta Enuresis nocturna Angulated humerus Spasticity Triangular face Gait disturbance Vomiting Hypertonia Dystonia Malar flattening Midface retrusion Abnormality of metabolism/homeostasis Constipation Pes cavus Decreased body weight Single transverse palmar crease Pathologic fracture Flat face Thin ribs Generalized osteoporosis Thin bony cortex Biconcave vertebral bodies Intrauterine growth retardation Agenesis of corpus callosum Narrow mouth Camptodactyly Abnormality of the pinna Round face Thin vermilion border Vertebral fusion Abnormal myelination Unilateral cryptorchidism Scoliosis Skeletal muscle atrophy Osteoporosis Kyphoscoliosis Pectus carinatum Platyspondyly Periventricular white matter hyperdensities



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