Abnormal facial shape, and Arachnodactyly

Diseases related with Abnormal facial shape and Arachnodactyly

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Arachnodactyly that can help you solving undiagnosed cases.


Top matches:

Medium 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

Medium match ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME


Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.

ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME Is also known as distal arthrogryposis with ophthalmoplegia|distal arthrogryposis type 5|oculomelic amyoplasia|distal arthrogryposis type iib

Related symptoms:

  • Ptosis
  • Visual impairment
  • Optic atrophy
  • Pectus excavatum
  • Inguinal hernia


SOURCES: ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME

Medium match GALLOWAY-MOWAT SYNDROME 5; GAMOS5


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 5; GAMOS5

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Other less relevant matches:

Medium match CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE


Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

Medium match GALLOWAY-MOWAT SYNDROME 4; GAMOS4


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

Medium match DISTAL 16P11.2 MICRODELETION SYNDROME


Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.

DISTAL 16P11.2 MICRODELETION SYNDROME Is also known as distal monosomy 16p11.2|distal del(16)(p11.2)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Kyphosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL 16P11.2 MICRODELETION SYNDROME

Medium match BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME


Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition.

BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME Is also known as vbs|platyspondyly with amelogenesis imperfecta|sthag6, formerly|tooth agenesis, selective, 6, formerly|platyspondyly-amelogenesis imperfecta syndrome|verloes-bourguignon syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Myopia
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME

Medium match CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM


Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Abnormal facial shape
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM

Medium match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Medium match 2Q24 MICRODELETION SYNDROME


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Arachnodactyly

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Proteinuria Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Arachnodactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Microcephaly Spasticity Cerebral atrophy Nephrotic syndrome Stage 5 chronic kidney disease Visual impairment Focal segmental glomerulosclerosis Generalized hypotonia Growth delay Neonatal hypotonia Short stature Delayed speech and language development Deeply set eye Glomerulosclerosis Mandibular prognathia High palate Pectus excavatum

Rare Symptoms - Less than 30% cases


Constipation Kyphosis Intrauterine growth retardation Hypoplasia of the maxilla Polymicrogyria Cerebellar hypoplasia Autistic behavior Feeding difficulties Flexion contracture Prominent nasal bridge Micrognathia Oval face Camptodactyly Macrotia Small for gestational age Failure to thrive Abnormal oral frenulum morphology Hand clenching Abnormality iris morphology Abnormality of the skeletal system Ventricular septal defect Atrial septal defect Microphthalmia Herniation of intervertebral nuclei Oligodontia Thick eyebrow Short palm Delayed eruption of teeth Microdontia Mitral valve prolapse Hypertrichosis Hypoplasia of dental enamel Widely spaced teeth Reduced number of teeth Intervertebral space narrowing Aortic aneurysm Agenesis of permanent teeth Amelogenesis imperfecta Large forehead Selective tooth agenesis Thoracic aortic aneurysm Abdominal aortic aneurysm Narrow vertebral interpedicular distance Abnormal heart morphology Short nose Intestinal malrotation Joint laxity Esotropia Narrow nose Camptodactyly of finger Soft skin Narrow maxilla Nystagmus Cerebellar atrophy Dysmetria Narrow forehead Long nose Minimal change glomerulonephritis Cleft palate Coloboma Cataract Downslanted palpebral fissures Low-set, posteriorly rotated ears Short neck Short philtrum Severe global developmental delay Abnormal cardiac septum morphology Abnormality of the genital system Broad forehead Carious teeth Anal atresia Behavioral abnormality Small face Coarctation of aorta Thin skin Central apnea Toe syndactyly Skeletal dysplasia Dental crowding Pointed chin Finger clinodactyly Long fingers Interphalangeal joint contracture of finger Short chin Cutis marmorata Platyspondyly Narrow mouth Osteopenia Congenital finger flexion contractures Ophthalmoplegia Triangular face Abnormal electroretinogram Bilateral talipes equinovarus Deviation of finger Dimple chin Absent palmar crease Inguinal hernia Hearing impairment Ataxia Epicanthus Ventriculomegaly Brain atrophy Peripheral demyelination Joint stiffness Optic atrophy Myopathy Narrow chest Macrocephaly Frontal bossing Intellectual disability, severe Intellectual disability, mild Prominent forehead Pectus carinatum Long face Ptosis Narrow face Growth abnormality Nasal speech Abnormality of the sternum Abnormality of the musculature Long foot Slender build Pachygyria Areflexia Delayed skeletal maturation Low anterior hairline Attention deficit hyperactivity disorder Retinal dystrophy Vesicoureteral reflux Migraine Renal agenesis Aganglionic megacolon Chronic kidney disease Autism Hyperuricemia Chronic constipation Moderate receptive language delay Myopia Abnormality of the dentition Dilatation Abnormality of the kidney Hyperactivity Polyhydramnios Poor suck Dolichocephaly High, narrow palate Single transverse palmar crease Decreased fetal movement Joint contracture of the hand Respiratory insufficiency due to muscle weakness Akinesia Rod-cone dystrophy Scaphocephaly Fetal akinesia sequence Overlapping fingers Tapered finger Diffuse mesangial sclerosis Headache Obesity Bullet-shaped distal phalanx of the hallux



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Prominent nasal bridge, related diseases and genetic alterations Myopia and Severe global developmental delay, related diseases and genetic alterations Brachydactyly and Talipes equinovarus, related diseases and genetic alterations Skeletal muscle atrophy and Short distal phalanx of finger, related diseases and genetic alterations Strabismus and Confusion, related diseases and genetic alterations

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