Abnormality of the skeletal system, and Long face

Diseases related with Abnormality of the skeletal system and Long face

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Long face that can help you solving undiagnosed cases.


Top matches:

Low match MENTAL RETARDATION, X-LINKED 97; MRX97


MENTAL RETARDATION, X-LINKED 97; MRX97 Is also known as mental retardation, x-linked 65|mrx65|mrxz

Related symptoms:

  • Intellectual disability
  • Delayed speech and language development
  • Motor delay
  • Prominent forehead
  • Macrotia


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 97; MRX97

Low match MENTAL RETARDATION, X-LINKED 101; MRX101


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 101; MRX101

Low match MENTAL RETARDATION, X-LINKED 72; MRX72


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Macrocephaly
  • Obesity


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 72; MRX72

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Other less relevant matches:

Low match MENTAL RETARDATION, X-LINKED 107; MRX107


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Abnormal facial shape
  • Behavioral abnormality
  • Upslanted palpebral fissure


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 107; MRX107

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14


Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

Low 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: OMIM MESH MENDELIAN

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

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7


MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7 Is also known as mrt22|mental retardation, autosomal recessive 22

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY


Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23|spinocerebellar ataxia autosomal recessive type 23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY

Low match MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A


Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; cholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Short stature
  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • High palate


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Long face

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Macrotia Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Long face. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


High palate Macrocephaly Hyperactivity Abnormal facial shape Narrow face Pointed chin Prominent forehead

Rare Symptoms - Less than 30% cases


Short stature Microcephaly Hypertelorism Deeply set eye Generalized hypotonia Pectus excavatum Kyphosis Intellectual disability, mild Short philtrum Frontal bossing Downslanted palpebral fissures Narrow philtrum Intellectual disability, severe Smooth philtrum Mandibular prognathia Autistic behavior Intellectual disability, moderate Dolichocephaly Autism Obesity Protruding ear Poor speech Truncal obesity Skeletal muscle atrophy Flexion contracture Ptosis Large hands Muscle weakness Polyphagia Overweight Prominent supraorbital ridges Thick lower lip vermilion Broad eyebrow Myopathy Facial palsy Short chin Neonatal hypotonia Ophthalmoplegia Progressive muscle weakness Poor head control Easy fatigability Ophthalmoparesis High pitched voice Hip contracture Wide nasal bridge Malar flattening Prominent nose Wide nose Aggressive behavior Thin upper lip vermilion Hypotelorism Muscular hypotonia Narrow mouth Hypoplasia of the maxilla Motor delay Synophrys Broad face Strabismus Absent speech Stereotypy Behavioral abnormality Upslanted palpebral fissure Scoliosis Pectus carinatum Prominent nasal bridge Narrow chest Arachnodactyly Growth abnormality Gait ataxia Nasal speech Abnormality of the sternum Abnormality of the musculature Long foot Slender build Cryptorchidism Pes planus Triangular face Tall stature Cupped ear Syndactyly Camptodactyly Ataxia Brachycephaly Long eyebrows



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