Intellectual disability, severe, and Short neck

Diseases related with Intellectual disability, severe and Short neck

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Short neck that can help you solving undiagnosed cases.

Top matches:

High match MONOSOMY 5P

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Other less relevant matches:

High match RFT1-CDG

RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).

RFT1-CDG Is also known as congenital disorder of glycosylation type in|cdg1n|cdg-in|cdg syndrome type in|carbohydrate deficient glycoprotein syndrome type in|man5glcnac2-pp-dol flippase deficiency|cdgin|cdg in|congenital disorder of glycosylation type 1n

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RFT1-CDG

An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by Santiago-Sim et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET SEIZURES-DISTAL LIMB ANOMALIES-FACIAL DYSMORPHISM-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE Is also known as nans deficiency|semd, genevieve type|semdg|semd, geneviÈve type

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE

Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severe intellectual disability, microcephaly, and variable degrees of pontocerebellar hypoplasia. Affected individuals have very poor psychomotor development, often without independent ambulation or speech, and axial hypotonia with or without hypertonia. Some may have sensorineural hearing loss or eye anomalies. Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism (summary by Moog et al., 2011).

MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH Is also known as micpch syndrome|mrxsna|mental retardation, x-linked, syndromic, najm type

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH

Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

TEMPLE-BARAITSER SYNDROME Is also known as severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|mental retardation, severe, and absent nails of hallux and pollex|tmbts

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMPLE-BARAITSER SYNDROME

X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Short neck

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Short neck. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

High palate Short stature Epicanthus Wide nasal bridge Muscular hypotonia Absent speech Hyperreflexia Spasticity Abnormal facial shape Growth delay Scoliosis Hearing impairment Hypoplasia of the corpus callosum Adducted thumb Motor delay Muscular hypotonia of the trunk Brachycephaly Postnatal microcephaly Low anterior hairline Ataxia Cerebral atrophy Micropenis Wide nose Tapered finger Broad thumb Long philtrum Macrotia Coarse facial features Micrognathia Downslanted palpebral fissures Small hand Nystagmus Strabismus

Rare Symptoms - Less than 30% cases

Babinski sign Sensorineural hearing impairment Intrauterine growth retardation Progressive microcephaly Anteverted nares Ventriculomegaly Flexion contracture Bruxism Encephalopathy Round face Failure to thrive Feeding difficulties Cognitive impairment Downturned corners of mouth Inguinal hernia Generalized tonic-clonic seizures Intellectual disability, progressive Small nail Wide intermamillary distance Wide mouth Thin upper lip vermilion Pneumonia Short nose Cleft palate Low-set ears Macrocephaly Abnormality of the pinna Talipes equinovarus Synophrys Spastic paraplegia Tetraplegia Spastic tetraplegia Hydrocephalus Obesity Delayed speech and language development Neonatal hypotonia Hypertonia Prominent nasal bridge Retrognathia Thick vermilion border Cryptorchidism Hypsarrhythmia Metaphyseal irregularity Progressive spastic paraparesis Infantile muscular hypotonia Excessive salivation Thick lower lip vermilion Decreased body weight Slender build Hypohidrosis Spondyloepiphyseal dysplasia Plagiocephaly Low posterior hairline Optic nerve hypoplasia Abnormally large globe Abnormality of the skin Optic disc pallor Short femoral neck Epileptic encephalopathy Pain Posterior scalloping of vertebral bodies Long fibula Narrow iliac wings Small basal ganglia Carpal bone hypoplasia Muscle weakness Irregular epiphyses Small epiphyses Spondyloepimetaphyseal dysplasia Broad nasal tip Cerebellar hypoplasia Intellectual disability, moderate Postnatal growth retardation Pallor Flat acetabular roof Irregular vertebral endplates Coloboma Metaphyseal striations Flared metaphysis Mania Malar flattening Shuffling gait Drooling Poor coordination Restlessness Hypoplastic thumbnail Cataract Tremor Gait disturbance Abnormality of the dentition Dystonia Intellectual disability, mild Kyphosis Progressive spasticity Pes cavus Spastic paraparesis Pseudoepiphysis of the thumb Gait ataxia EEG abnormality Abnormal pyramidal sign Genu valgum Paraplegia Parkinsonism Abnormality of extrapyramidal motor function Apraxia Psychosis Choreoathetosis Clumsiness Paraparesis Absent nail of hallux Tented philtrum Overlapping fingers Broad hallux Dilated fourth ventricle Oval face Macrogyria Ptosis Depressed nasal bridge Spastic gait Short distal phalanx of finger Full cheeks Prominent nose Open mouth Short thumb Myopathic facies Anonychia Flat forehead Global brain atrophy Poor eye contact Macroorchidism Short columella Low hanging columella High anterior hairline Flat face Facial hypotonia Thick nasal alae Small thenar eminence Frontal upsweep of hair Pseudoepiphyses Hirsutism Short finger Bulbous nose Slender finger Cleft lip Developmental regression Short philtrum Abnormality of the cerebral white matter Smooth philtrum Cleft upper lip Febrile seizures Hypotelorism Severe muscular hypotonia Truncal obesity Overweight Flexion contracture of thumb Mild microcephaly Unilateral cleft lip Abnormality of the cerebellar vermis Horizontal eyebrow Visual impairment Hepatomegaly Respiratory insufficiency Myoclonus Cerebral cortical atrophy Reduced visual acuity Hyperactivity Esodeviation Abnormality of the foot Abnormality of bone mineral density Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Finger syndactyly Severe global developmental delay Joint hyperflexibility Recurrent fractures Preauricular skin tag Microretrognathia Abnormality of the voice High pitched voice Cat cry Oxycephaly Hyporeflexia Agenesis of corpus callosum Joint stiffness Holoprosencephaly Increased intracranial pressure Bilateral cryptorchidism Hemiplegia/hemiparesis Absent septum pellucidum Aqueductal stenosis Visceromegaly Arthrogryposis multiplex congenita Abnormal bleeding Confusion Highly arched eyebrow Facial capillary hemangioma Abnormal heart morphology Autism Protruding ear Autistic behavior Abnormal cardiac septum morphology Broad forehead Arachnodactyly Long face Inability to walk Long eyelashes Abnormality of the rib cage Sacral dimple Flat occiput Overlapping toe Long nose Long palpebral fissure Abnormality of the skeletal system Prominent forehead Skeletal dysplasia Joint laxity Platyspondyly U-Shaped upper lip vermilion Thickened nuchal skin fold Abnormality of the coagulation cascade Clinodactyly Mild short stature Abnormality of coagulation Inverted nipples Stroke-like episode Abnormal thrombosis Pes valgus Hyperintensity of cerebral white matter on MRI Abnormality of the posterior cranial fossa Abnormal isoelectric focusing of serum transferrin Bilateral basal ganglia lesions Posteriorly rotated ears Scaphocephaly Respiratory tract infection Dolichocephaly Single transverse palmar crease Congenital hip dislocation Multicystic kidney dysplasia Recurrent upper respiratory tract infections Deep philtrum Radial deviation of finger Broad palm Hyperactive deep tendon reflexes Juvenile cataract


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