Delayed speech and language development, and Triangular face

Diseases related with Delayed speech and language development and Triangular face

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


Top matches:

High match MENTAL RETARDATION, X-LINKED 93; MRX93

MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: MESH OMIM UMLS MONDO

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

High match PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS

Partington syndrome is an X-linked developmental disorder characterized by mental retardation and variable movement disturbances. Partington syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly (LISX2 ) to Proud syndrome (OMIM ) to infantile spasms without brain malformations (EIEE1 ) to nonsyndromic mental retardation (OMIM ). Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected (Kato et al., 2004; Wallerstein et al., 2008).

PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS Is also known as partington syndrome, mental retardation, x-linked, syndromic 1;mrxs1, mental retardation, x-linked, with dystonic movements, ataxia, and seizures, mental retardation, x-linked 36;mrx36

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM

More info about PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS

High match INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

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


SOURCES: OMIM UMLS MONDO

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

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Other less relevant matches:

High match YUAN-HAREL-LUPSKI SYNDROME; YUHAL

Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

YUAN-HAREL-LUPSKI SYNDROME; YUHAL Is also known as ;17p11.2p12 microduplication syndrome; dup(17)(p11.2p12); trisomy 17p11.2-p12; trisomy 17p11.2p12; yuan-harel-lupski syndrome

Related symptoms:

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


SOURCES: ORPHANET UMLS OMIM MONDO

More info about YUAN-HAREL-LUPSKI SYNDROME; YUHAL

High match LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10

PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10 Is also known as ;

Related symptoms:

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


SOURCES: UMLS OMIM ORPHANET DOID MONDO

More info about LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10

High match MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE Is also known as mental retardation, x-linked 60, formerly;mrx60, formerly;ophn1 syndrome; oligophrenin-1 syndrome

Related symptoms:

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


SOURCES: ORPHANET SCTID GARD MESH OMIM UMLS MONDO

More info about MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE

High match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: UMLS OMIM

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

High match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as oddd, autosomal recessive, oculodentoosseous dysplasia, autosomal recessive, odod, autosomal recessive

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Micrognathia


SOURCES: GARD OMIM UMLS MESH MONDO

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

High match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM UMLS MONDO

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Frontal bossing Autosomal recessive inheritance Failure to thrive Low-set ears Spasticity Smooth philtrum Hypertelorism Prominent forehead Strabismus Thin upper lip vermilion Absent speech Ventriculomegaly Thin vermilion border Focal seizures Cerebral cortical atrophy Intellectual disability, moderate Long philtrum Upslanted palpebral fissure Gait ataxia Hypoplasia of the corpus callosum Joint laxity Nystagmus Motor delay Microcephaly Macrotia Abnormal facial shape Long face Feeding difficulties Cryptorchidism Macrocephaly X-linked recessive inheritance

Rare Symptoms - Less than 30% cases


High palate Long nose Oxycephaly Focal seizures with impairment of consciousness or awareness Cerebellar hypoplasia Congenital onset Constipation Global brain atrophy Tremor Kyphosis Anteverted nares Pes planus Mandibular prognathia Prominent nose Abnormal cerebellum morphology Poor speech Small hand Failure to thrive in infancy Muscular hypotonia Short philtrum Disproportionate tall stature Micropenis Ptosis Scoliosis Short palpebral fissure Posteriorly rotated ears Pica Muscular hypotonia of the trunk Myopia Flexion contracture Dystonia Bulbous nose Prominent nasal bridge Brain atrophy Cataract Overgrowth Pointed chin Epicanthus Tall stature Arachnodactyly Protruding ear Malar flattening Brachycephaly High forehead Sparse eyelashes Fine hair Large fontanelles Hyperostosis Abnormality of dental morphology Abnormality of dental enamel Dental crowding Delayed skeletal maturation Sparse scalp hair Microphthalmia Communicating hydrocephalus Slender build Long neck Expressive language delay Metopic synostosis Thick corpus callosum Severe expressive language delay Short stature Micrognathia Abnormality of the dentition Narrow nose Dental malocclusion Syndactyly Clinodactyly Narrow mouth Telecanthus Toe syndactyly Short foot Delayed eruption of teeth Microcornea Hypoplasia of the maxilla Underdeveloped nasal alae Basal ganglia calcification Congestive heart failure Spinal cord compression Dyskinesia Wide nasal base Cavum septum pellucidum Narrow naris Intrauterine growth retardation Short neck Cerebral atrophy Encephalopathy Osteopenia Broad forehead Severe global developmental delay Tapered finger Sleep disturbance Esotropia Right bundle branch block Open mouth Athetosis Intellectual disability, profound Choreoathetosis Plagiocephaly Cachexia Tented upper lip vermilion Hip contracture Facial hypotonia Profound global developmental delay Generalized tonic seizures Profound static encephalopathy Entropion Bundle branch block Large earlobe Talipes equinovarus Mild global developmental delay Hypoplasia of teeth Cutaneous syndactyly of toes Cranial hyperostosis Broad long bones Persistent pupillary membrane Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Myopathy Ventricular septal defect Cardiomyopathy Narrow palpebral fissure Atrial septal defect Inguinal hernia Hernia Pneumonia Retrognathia Camptodactyly Polymicrogyria Gliosis Sepsis Convex nasal ridge Sloping forehead Cutis laxa Long foot Dysmetria Megalencephaly Wide nose Autosomal dominant inheritance Peripheral neuropathy Abnormality of cardiovascular system morphology Areflexia Abnormal heart morphology Abnormal cardiac septum morphology Distal sensory impairment Abnormality of the foot Unsteady gait Sensory impairment Hyperparathyroidism Decreased nerve conduction velocity Broad-based gait Decreased number of peripheral myelinated nerve fibers Onion bulb formation Syringomyelia Chronic constipation Demyelinating peripheral neuropathy Hearing impairment Hyperreflexia Skeletal muscle atrophy Obsessive-compulsive trait Unilateral renal agenesis Abnormality of the skeletal system Lower limb spasticity Intellectual disability, mild Pectus excavatum Cupped ear Thoracic kyphosis Cognitive impairment Dysarthria EEG abnormality Rigidity Wide mouth Arachnoid cyst Calcinosis Limb dystonia Cogwheel rigidity Focal dystonia Stuttering Grasp reflex Depressed nasal bridge Anxiety Highly arched eyebrow Generalized seizures Nephrocalcinosis Hypertonia Short nose Long fingers Infra-orbital crease Scrotal hypoplasia Prominent supraorbital ridges External genital hypoplasia Poor eye contact Enlarged cisterna magna Cerebellar cyst Microphallus Abnormality of the philtrum Retrocerebellar cyst Disorganization of the anterior cerebellar vermis Intention tremor Hydrocephalus Cerebellar atrophy Proptosis Kyphoscoliosis Hyperlordosis Difficulty walking High myopia Lumbar hyperlordosis Large hands Sparse eyebrow Cerebellar vermis hypoplasia Hypotelorism Babinski sign Mutism Progressive Abnormality of the pinna Pectus carinatum Thick vermilion border Narrow forehead Postnatal microcephaly Inability to walk Progressive microcephaly Leukodystrophy CNS hypomyelination Overfolded helix Deeply set eye Long toe Ataxia Infantile onset Intellectual disability, severe Dilatation Hyperactivity Autism Neonatal hypotonia Attention deficit hyperactivity disorder Neurological speech impairment Appendicular hypotonia



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