Delayed speech and language development, and Bulbous nose

Diseases related with Delayed speech and language development and Bulbous nose

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


Top matches:

High match MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11

X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.

MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11 Is also known as shashi x-linked mental retardation syndrome;smrxs, mental retardation, x-linked, shashi type;syndromic x-linked intellectual disability type 11

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: UMLS OMIM MONDO ORPHANET SCTID GARD MESH DOID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11

High match DYSTONIA 28, CHILDHOOD-ONSET; DYT28

Dystonia-28 is an autosomal dominant neurologic disorder characterized by onset of progressive dystonia in the first decade of life. Dystonia typically begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. The severity is variable, and some patients may become wheelchair-bound. Many patients also have an elongated face with bulbous nose, and some have abnormal eye movements. About half of patients show delayed motor and/or cognitive development with mild intellectual disability (summary by Zech et al., 2016 and Meyer et al., 2017).

Related symptoms:

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


SOURCES: MONDO UMLS OMIM

More info about DYSTONIA 28, CHILDHOOD-ONSET; DYT28

High match SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cerebral palsy, spastic quadriplegic, 5, formerly;cpsq5, formerly

Related symptoms:

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


SOURCES: MONDO OMIM DOID UMLS

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

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Other less relevant matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly


SOURCES: UMLS ORPHANET OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: UMLS MONDO OMIM DOID

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

High match SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly;cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM DOID UMLS MONDO

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

High match SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51

Spastic paraplegia-51 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Moreno-De-Luca et al., 2011).

SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51 Is also known as cerebral palsy, spastic quadriplegic, 4, formerly;cpsq4, formerly

Related symptoms:

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


SOURCES: UMLS MONDO OMIM DOID

More info about SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51

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 6Q16 DELETION SYNDROME

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16); monosomy 6q16; prader-willi-like syndrome due to deletion 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET

More info about 6Q16 DELETION SYNDROME

High match NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

Related symptoms:

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


SOURCES: OMIM UMLS MONDO

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Bulbous nose

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

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

Uncommon Symptoms - Between 30% and 50% cases


Babinski sign Short stature Hyperreflexia Absent speech Spasticity Hypertonia Coarse facial features Macrotia Hearing impairment Abnormal facial shape Narrow forehead Talipes equinovarus Intellectual disability, severe Autosomal recessive inheritance Wide mouth Talipes Ventriculomegaly High palate Flexion contracture Wide nasal bridge Congenital onset Nystagmus Muscular hypotonia of the trunk Spastic paraplegia Febrile seizures Facial hypotonia Cerebral cortical atrophy Hypertelorism Short philtrum Autistic behavior Dystonia Autosomal dominant inheritance

Rare Symptoms - Less than 30% cases


Feeding difficulties Neonatal hypotonia Paraplegia Tetraplegia Thick lower lip vermilion Spastic tetraplegia Inability to walk Strabismus Failure to thrive Obesity Growth delay Autism Abnormality of the pinna Deeply set eye Anteverted nares Low-set ears Thick eyebrow Brain atrophy Prominent nose Downslanted palpebral fissures Progressive microcephaly Hyperactivity Macrocephaly Hypoplasia of the corpus callosum Dysarthria Motor delay Muscular hypotonia Progressive Gait disturbance Thick vermilion border Round face Long nose Thin vermilion border Smooth philtrum Pectus carinatum Upslanted palpebral fissure Malar flattening Long philtrum Short nose Abnormality of the skeletal system Osteopenia Skeletal muscle atrophy Abnormality of the cerebral white matter Prominent antihelix Decreased muscle mass Triangular face Drooling Pointed chin High, narrow palate Narrow face Cerebellar atrophy Dyskinesia Cortical visual impairment Self-injurious behavior Sensorineural hearing impairment Nasogastric tube feeding Simple febrile seizures Loss of ability to walk Spastic diplegia Arachnodactyly Postnatal microcephaly Short foot Cerebral palsy Tapered finger Full cheeks Misalignment of teeth Short palm Prominent nasal bridge Ptosis Microretrognathia EEG abnormality Polyphagia Brachycephaly Clinodactyly of the 5th finger Abnormality of cardiovascular system morphology Myopia Leukodystrophy Epicanthus Depressed nasal bridge Long toe Global brain atrophy Visual impairment Cerebral atrophy Overfolded helix Mutism Midface retrusion Encephalopathy Oxycephaly Narrow nose CNS hypomyelination Prominent forehead Abnormality of eye movement Focal seizures Cognitive impairment Genu recurvatum Specific learning disability Abnormality of the periventricular white matter Protruding tongue Open mouth Bilateral sensorineural hearing impairment Waddling gait Narrow palpebral fissure Prominent supraorbital ridges Palpebral edema Slow progression Pes planus Macroorchidism Periorbital fullness Tremor Acetabular dysplasia Myoclonus Clonus Retrocollis Abnormal posturing Craniofacial dystonia Oromandibular dystonia Laryngeal dystonia Mild microcephaly Generalized dystonia Limb dystonia Toe walking Dysphonia Torticollis Clumsiness Excessive salivation Everted upper lip vermilion Highly arched eyebrow Pes cavus Apnea Hydrocephalus Long eyelashes Hypsarrhythmia Unsteady gait Long face Astigmatism Synophrys Dolichocephaly Joint laxity Aggressive behavior X-linked recessive inheritance Mandibular prognathia Posteriorly rotated ears Arrhythmia Ataxia Intellectual disability, moderate Scoliosis Small earlobe Thickened helices Hallux valgus Failure to thrive in infancy Hypotelorism Eczema Blepharophimosis Severe global developmental delay Small for gestational age Everted lower lip vermilion Intrauterine growth retardation Micrognathia Recurrent hand flapping



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