Abnormality of the skeletal system, and Synophrys

Diseases related with Abnormality of the skeletal system and Synophrys

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Synophrys 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 ISOLATED TRIGONOCEPHALY


Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.

ISOLATED TRIGONOCEPHALY Is also known as non-syndromic metopic craniosynostosis

Related symptoms:

  • Wide nasal bridge
  • Synophrys
  • Hypotelorism
  • Omphalocele
  • Prominent supraorbital ridges


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED TRIGONOCEPHALY

Low match HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3


Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Edema


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3

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Other less relevant matches:

Low match HOLOPROSENCEPHALY 11; HPE11


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cleft palate
  • Agenesis of corpus callosum
  • Proptosis


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 11; HPE11

Low match DEAFNESS-INFERTILITY SYNDROME


Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

Low match SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME


Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.

SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME Is also known as deafness, congenital, with split hands and feet

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Frontal bossing


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME

Low match WAARDENBURG SYNDROME, TYPE 2A; WS2A


Waardenburg syndrome type 2 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, which is seen in some other forms of WS (reviews by Read and Newton, 1997 and Pingault et al., 2010). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Waardenburg syndrome type 1 (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type 2 (WS2) is distinguished from type 1 by the absence of dystopia canthorum. WS type 3 (WS3 ) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). Genetic Heterogeneity of Waardenburg Syndrome Type 2Waardenburg syndrome type 2 is a genetically heterogeneous disorder. WS2B (OMIM ) has been mapped to chromosome 1p, WS2C (OMIM ) has been mapped to chromosome 8p23, WS2D (OMIM ) is caused by mutation in the SNAI2 gene (OMIM ) on chromosome 8q11, and WS2E (OMIM ) is caused by mutation in the SOX10 gene (OMIM ) on chromosome 22q13.

WAARDENBURG SYNDROME, TYPE 2A; WS2A Is also known as waardenburg syndrome without dystopia canthorum|ws2|waardenburg syndrome, type iia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Wide nasal bridge
  • Telecanthus
  • Cleft lip


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 2A; WS2A

Low match MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4


Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by Woods et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4

Low match X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY


X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

Low match TRIGONOCEPHALY 1; TRIGNO1


Individuals with trigonocephaly have a keel-shaped forehead with wide biparietal diameter, resulting in a triangular shape of the head. Trigonocephaly results from premature closure of the metopic sutures and usually occurs sporadically (summary by Frydman et al., 1984). Genetic Heterogeneity of Isolated TrigonocephalyAlso see trigonocephaly-2 (TRIGNO2 ), caused by mutation in the FREM1 gene (OMIM ) on chromosome 9p22.

TRIGONOCEPHALY 1; TRIGNO1 Is also known as craniosynostosis, metopic

Related symptoms:

  • Microcephaly
  • Craniosynostosis
  • Synophrys
  • Hypotelorism
  • Omphalocele


SOURCES: OMIM MENDELIAN

More info about TRIGONOCEPHALY 1; TRIGNO1

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

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hypotelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Hearing impairment Sensorineural hearing impairment Intellectual disability, moderate Hypertelorism

Rare Symptoms - Less than 30% cases


High palate Delayed speech and language development Growth hormone deficiency Thick eyebrow Cleft lip Severe short stature Moderate hearing impairment Trigonocephaly Omphalocele Abnormal facial shape Partial albinism Aggressive behavior Ventriculomegaly Micrognathia Seizures Hypoplastic iris stroma White eyebrow White eyelashes White forelock Cerebellar vermis hypoplasia Heterochromia iridis Blue irides Premature graying of hair Albinism Congenital sensorineural hearing impairment Aganglionic megacolon Underdeveloped nasal alae Hypopigmentation of the skin Abnormality of skin pigmentation Telecanthus Sloping forehead Cortical gyral simplification Impulsivity Adrenal insufficiency Meckel diverticulum Long penis Mild microcephaly Preauricular skin tag Abnormality of the genital system Craniosynostosis Panhypopituitarism Myelomeningocele Hypopituitarism Spina bifida occulta Hitchhiker thumb Spina bifida Aspiration Delayed puberty Coarse facial features Hypothyroidism Long philtrum Intellectual disability, mild Epicanthus Bimanual synkinesia Aplasia of the 2nd finger Abnormality of the nail Split foot Agenesis of corpus callosum Poor speech Long face Broad face Polysplenia Holoprosencephaly Prominent supraorbital ridges Oral cleft Proptosis Cleft palate Anemia Strabismus Facial edema Protein-losing enteropathy Abnormal intestine morphology Lymphedema Flat face Hepatosplenomegaly Polyhydramnios Upslanted palpebral fissure Low-set ears Macrotia Edema Reduced sperm motility Low anterior hairline Split hand Tapered finger Motor delay Clinodactyly Frontal bossing Scoliosis Prominent eyelashes Prominent forehead Abnormal spermatogenesis Brachydactyly Congenital hypoplastic anemia Anemia of inadequate production Male infertility Progressive sensorineural hearing impairment Azoospermia Narrow palpebral fissure Bilateral sensorineural hearing impairment Infertility Prominent nasal bridge Lumbar hemivertebrae



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