Delayed speech and language development, and Long philtrum

Diseases related with Delayed speech and language development and Long philtrum

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


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Related symptoms:

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


SOURCES: DOID MONDO UMLS OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

High 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

High match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P

(13q14.3).

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P Is also known as ;cdg syndrome type ip; cdg-ip; cdg1p; carbohydrate deficient glycoprotein syndrome type ip; congenital disorder of glycosylation type 1p; congenital disorder of glycosylation type ip

Related symptoms:

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


SOURCES: UMLS OMIM SCTID MONDO ORPHANET GARD

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P

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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 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly


SOURCES: MONDO OMIM MESH UMLS

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

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 CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR

Nonprogressive cerebellar ataxia with mental retardation is an autosomal dominant neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable (summary by Thevenon et al., 2012).

CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR Is also known as ;

Related symptoms:

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


SOURCES: MONDO DOID UMLS OMIM ORPHANET

More info about CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR

High match ALAZAMI-YUAN SYNDROME; ALYUS

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS OMIM MONDO

More info about ALAZAMI-YUAN SYNDROME; ALYUS

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23

MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 Is also known as ;

Related symptoms:

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


SOURCES: ORPHANET OMIM DOID UMLS MONDO

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23

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

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

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Autosomal recessive inheritance Absent speech Abnormal facial shape Thin upper lip vermilion Upslanted palpebral fissure Poor speech Aggressive behavior Feeding difficulties Cerebellar hypoplasia Downslanted palpebral fissures Neonatal hypotonia Autosomal dominant inheritance Anteverted nares Smooth philtrum

Rare Symptoms - Less than 30% cases


Astigmatism Failure to thrive High palate Long eyelashes Wide intermamillary distance Congenital onset Constipation Gait ataxia Wide nasal bridge Unsteady gait Cerebral cortical atrophy Low anterior hairline Dental crowding Synophrys Cryptorchidism Narrow mouth Bulbous nose Abnormality of the skeletal system Triangular face Thick lower lip vermilion Hyperactivity Hypoplasia of the corpus callosum Micrognathia Growth delay Wide nose Nystagmus Hyperreflexia Muscular hypotonia of the trunk Scoliosis Downturned corners of mouth Pointed chin Intellectual disability, severe Tremor Short nose Inability to walk Depressed nasal bridge Hearing impairment Thick eyebrow Hypertonia Myopia Cerebellar atrophy Ataxia Obsessive-compulsive behavior Dysarthria Macrocephaly Edema Hyperlordosis Drooling Global brain atrophy Intellectual disability, mild Autism Abnormal pyramidal sign Deeply set eye Autistic behavior Long toe Overfolded helix Dysmetria Mutism CNS hypomyelination Leukodystrophy Progressive microcephaly Postnatal microcephaly Narrow forehead Brain atrophy Thick vermilion border Arachnodactyly Obesity Thin vermilion border Pectus carinatum Abnormality of the pinna Slender finger Long face Memory impairment Generalized myoclonic seizures Epicanthus Unilateral cryptorchidism Short columella Broad hallux Pica Hypertelorism Prominent nose Underdeveloped nasal alae Hirsutism Highly arched eyebrow Kyphosis Single transverse palmar crease Narrow chest Hypospadias Prominent nasal bridge Short stature Curly eyelashes Abnormal cortical gyration Intention tremor Depressed nasal ridge Infantile muscular hypotonia Brisk reflexes Clinodactyly Palpebral edema Large forehead Segmental myoclonic seizures Nonprogressive cerebellar ataxia Brachycephaly Abnormal social behavior Mesiodens Short ear Hypoplastic hippocampus Progressive Low-set ears Babinski sign Hand tremor Broad finger Kinetic tremor Self-mutilation Peripheral neuropathy Abnormality of cardiovascular system morphology Areflexia Narrow palpebral fissure Mild microcephaly Narrow palate Abnormal heart morphology Joint laxity Abnormal cardiac septum morphology Distal sensory impairment Abnormality of the foot Congenital microcephaly Hypoplasia of the pons Small hand Ptosis Opisthotonus Scaling skin Inverted nipples Type I transferrin isoform profile Temperature instability Retrognathia Vomiting Amblyopia Infantile onset Pallor Muscular hypotonia Sensorineural hearing impairment Low posterior hairline Optic disc pallor Waddling gait Sensory impairment Malar flattening Cortical gyral simplification Heterotopia Hemiparesis Intellectual disability, progressive Spastic tetraparesis Lissencephaly Impulsivity Maternal diabetes Tetraparesis Abnormal corpus callosum morphology Schizencephaly Spasticity High forehead Skeletal muscle atrophy Wide mouth Pachygyria Decreased fetal movement Decreased nerve conduction velocity Demyelinating peripheral neuropathy Broad-based gait Failure to thrive in infancy Decreased number of peripheral myelinated nerve fibers Onion bulb formation Syringomyelia Chronic constipation Blepharophimosis Sloping forehead Macrotia Mandibular prognathia Intrauterine growth retardation Abnormality of the genital system Sandal gap Intellectual disability, moderate Polymicrogyria Impaired mastication



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