Abnormality of the skeletal system, and Full cheeks

Diseases related with Abnormality of the skeletal system and Full cheeks

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


Top matches:

Low match CRISPONI/COLD-INDUCED SWEATING SYNDROME 3; CISS3


Crisponi/cold-induced sweating syndrome-3 is an autosomal recessive disorder characterized by infantile-onset hyperthermia and abnormal paroxysmal contractions of the facial and oropharyngeal muscles, resulting in feeding and respiratory difficulties. Other features include joint contractures and camptodactyly. Death in infancy may occur, and those that survive may develop retinitis pigmentosa later in childhood. Individuals with some forms of Crisponi syndrome may develop paradoxical cold-induced sweating later in childhood, although this is a variable finding (summary by Angius et al., 2016).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Flexion contracture
  • High palate
  • Feeding difficulties
  • Depressed nasal bridge
  • Fever


SOURCES: OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 3; CISS3

Low match ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG


Related symptoms:

  • Flexion contracture
  • Ventricular septal defect
  • Atrial septal defect
  • Camptodactyly
  • Arthrogryposis multiplex congenita


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG

Low match ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME


Acute infantile liver failure-multisystemic involvement syndrome is a rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME

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Other less relevant matches:

Low match 1P21.3 MICRODELETION SYNDROME


1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).

1P21.3 MICRODELETION SYNDROME Is also known as monosomy 1p21.3|del(1)p(21.3)

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Micrognathia
  • Delayed speech and language development
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about 1P21.3 MICRODELETION SYNDROME

Low match LARGE CONGENITAL MELANOCYTIC NEVUS


A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

Low match GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH


GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46; EIEE46


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46; EIEE46

Low match SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME


Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).

SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME Is also known as sino syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME

Low match GELEOPHYSIC DYSPLASIA 2; GPHYSD2


Related symptoms:

  • Short stature
  • Hypertelorism
  • Hepatomegaly
  • Respiratory insufficiency
  • Short nose


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 2; GPHYSD2

Low match LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7


Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Full cheeks

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Short nose Deeply set eye

Rare Symptoms - Less than 30% cases


Agenesis of corpus callosum Round face Astigmatism Hypertelorism Sensorineural hearing impairment Hepatomegaly Elevated hepatic transaminase Abnormality of the liver Hepatic failure Long philtrum Hepatic steatosis Delayed gross motor development Abnormal facial shape Obesity Micrognathia Delayed speech and language development Prominent forehead Flexion contracture Broad nasal tip Dysphagia Camptodactyly Feeding difficulties Arthrogryposis multiplex congenita Muscular hypotonia of the trunk Long eyelashes Decreased liver function Cerebral atrophy Cholestasis Postnatal growth retardation Joint laxity Hyperextensible skin Hydronephrosis Reduced visual acuity Polyhydramnios Spastic paraplegia Hypermetropia CNS hypomyelination Hypoplasia of the corpus callosum Visual impairment Status epilepticus Ventriculomegaly Hyperreflexia Nystagmus Tented upper lip vermilion Hypertonia Absent speech Constipation Pes planus Thick eyebrow Widely spaced teeth Epileptic encephalopathy Paraplegia Hypsarrhythmia Cerebral visual impairment Dilation of lateral ventricles Delayed myelination Myopathy Cone-shaped epiphysis Toe walking Ovoid vertebral bodies Mitral stenosis Pain Short neck Areflexia Mitral regurgitation Cerebellar hypoplasia Respiratory failure Hirsutism Lymphedema Lissencephaly Centrally nucleated skeletal muscle fibers Hand clenching Aortic valve stenosis Pulmonary arterial hypertension Esotropia Esophoria Optic disc pallor Plagiocephaly Progressive spastic paraplegia Partial agenesis of the corpus callosum Limb hypertonia Spasticity Abnormal CNS myelination Short stature Mitral valve prolapse Respiratory insufficiency Delayed skeletal maturation Thin upper lip vermilion Joint stiffness Smooth philtrum Short palm Short foot Intrauterine growth retardation Deep philtrum Growth delay Acute hepatic failure Frontal bossing Lactic acidosis Abnormality of the coagulation cascade Long fingers Microcytic anemia Macrocytic anemia Long toe Decreased hip abduction Myopia Macrocephaly Behavioral abnormality Intellectual disability, mild Upslanted palpebral fissure Aggressive behavior Anemia Atopic dermatitis Wide mouth Ventricular septal defect Depressed nasal bridge Fever Respiratory distress Rod-cone dystrophy Hyperhidrosis Cold-induced sweating Atrial septal defect Aseptic necrosis Pulmonic stenosis Asthma Inflammatory abnormality of the skin Joint contracture of the hand Pyloric stenosis Overlapping toe Multiple joint contractures Autistic behavior Joint hypermobility Hearing impairment Periorbital fullness Sarcoma High palate Melanocytic nevus Hypermelanotic macule Narrow nasal bridge Calvarial skull defect Rhabdomyosarcoma Hypopigmented skin patches Thick hair Narrow nasal ridge Cutaneous melanoma Epidermal nevus Prominence of the premaxilla Congenital giant melanocytic nevus Nevus spillus Melanoma Neoplasm of the skin Abnormality of vision Hydrocephalus Self-injurious behavior Self-mutilation Long ear Shyness Abnormal eating behavior Neoplasm Broad forehead Generalized hirsutism Papule Pruritus Abnormality of skin pigmentation Everted lower lip vermilion Nevus Open mouth Subcutaneous nodule Agyria



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