Abnormal facial shape, and Dilatation

Diseases related with Abnormal facial shape and Dilatation

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


Top matches:

Low match CHUDLEY-MCCULLOUGH SYNDROME


Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.

CHUDLEY-MCCULLOUGH SYNDROME Is also known as dfnb82, formerly|deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts|deafness, autosomal recessive 82, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHUDLEY-MCCULLOUGH SYNDROME

Low match PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A


The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Low-set ears
  • Hepatomegaly
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A

Low match GRANGE SYNDROME


Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

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Other less relevant matches:

Low match UROFACIAL SYNDROME 1; UFS1


The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010). Genetic Heterogeneity of Urofacial SyndromeUrofacial syndrome-2 (UFS2 ) is caused by mutation in the LRIG2 gene (OMIM ) on chromosome 1p13.

UROFACIAL SYNDROME 1; UFS1 Is also known as facial palsy, partial, with urinary abnormalities|ochoa syndrome|hydronephrosis with peculiar facial expression|urofacial syndrome|inverted smile and occult neuropathic bladder|ufs

Related symptoms:

  • Abnormal facial shape
  • Pain
  • Cryptorchidism
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about UROFACIAL SYNDROME 1; UFS1

Low match CAP MYOPATHY


Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.

CAP MYOPATHY Is also known as cap disease

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • High palate
  • Motor delay
  • Myopathy


SOURCES: MESH ORPHANET MENDELIAN

More info about CAP MYOPATHY

Low 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

Low match HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS


Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

Low match COLOBOMA OF IRIS


Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular ColobomaA recessive form of ocular coloboma (OMIM ) is caused by mutation in the SALL2 gene (OMIM ) on chromosome 14q11.

COLOBOMA OF IRIS Is also known as coloboma of iris, choroid, and retina|coi|coloboma, uveoretinal

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLOBOMA OF IRIS

Low match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Low match MEESTER-LOEYS SYNDROME; MRLS


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Flexion contracture
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about MEESTER-LOEYS SYNDROME; MRLS

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

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Spasticity Agenesis of corpus callosum Nystagmus Aortic aneurysm Hypertension Global developmental delay

Rare Symptoms - Less than 30% cases


Motor delay Renal insufficiency Short palm Aortic regurgitation Frontal bossing Cryptorchidism Vesicoureteral reflux Cognitive impairment Pes planus Long face Mitral valve prolapse Intellectual disability, severe Flexion contracture Strabismus Hypertrichosis Mandibular prognathia Skeletal dysplasia Pain Platyspondyly Hydrocephalus Cerebellar hypoplasia Poor eye contact Holoprosencephaly Joint hypermobility Carcinoma Joint stiffness Hip dislocation Abnormal pyramidal sign Spastic paraplegia Camptodactyly Paraplegia Paraparesis Spastic paraparesis Increased intracranial pressure Coarse facial features Adducted thumb Hemiplegia/hemiparesis Absent septum pellucidum Renal cell carcinoma Aqueductal stenosis Clear cell renal cell carcinoma Flexion contracture of thumb Corticospinal tract hypoplasia Noncommunicating hydrocephalus Microcephaly Growth delay Bifid uvula Gingival overgrowth Mitral regurgitation Agenesis of permanent teeth Pulmonary artery aneurysm Delayed eruption of teeth Aortic dissection Hypoplasia of the maxilla Microdontia Dilatation of the cerebral artery Hypoplasia of dental enamel Widely spaced teeth Oligodontia Reduced number of teeth Striae distensae Amelogenesis imperfecta Microphthalmia Large forehead Selective tooth agenesis Thoracic aortic aneurysm Abdominal aortic aneurysm Narrow vertebral interpedicular distance Intervertebral space narrowing Herniation of intervertebral nuclei Neoplasm Abnormality of the sternum Relative macrocephaly Joint dislocation Ptosis Glaucoma Long nose Retrocerebellar cyst Deeply set eye Neonatal hypotonia Intellectual disability, moderate Attention deficit hyperactivity disorder Infra-orbital crease Short philtrum Neurological speech impairment Poor speech Dysmetria Abnormal cerebellum morphology Triangular face Prominent nose Thin upper lip vermilion Focal-onset seizure Hypotelorism Abnormality of the philtrum Microphallus Cerebellar vermis hypoplasia Enlarged cisterna magna Intention tremor Scrotal hypoplasia Prominent supraorbital ridges Focal impaired awareness seizure External genital hypoplasia Disorganization of the anterior cerebellar vermis Macrotia Reduced visual acuity Remnants of the hyaloid vascular system Postnatal growth retardation Coloboma Corneal opacity Iris coloboma Microcornea Aganglionic megacolon Proptosis Chorioretinal coloboma Increased intraocular pressure Optic nerve coloboma Peters anomaly Morning glory anomaly Autism Optic nerve aplasia Thick eyebrow Malar flattening Muscular hypotonia Delayed speech and language development Tremor Downslanted palpebral fissures Prominent forehead Hyperactivity Cerebral cortical atrophy Micropenis Gait ataxia Ataxia Abnormality of muscle fibers Arachnodactyly Cutaneous syndactyly Ventricular septal defect Cardiomyopathy Syndactyly Clinodactyly Patent ductus arteriosus Abnormal heart morphology Abdominal pain Pulmonic stenosis Recurrent fractures Specific learning disability Decreased body weight Finger clinodactyly Bicuspid aortic valve Failure to thrive Increased susceptibility to fractures Cutaneous finger syndactyly Perimembranous ventricular septal defect Gastritis Arterial stenosis Intellectual disability, borderline Coronary artery stenosis Renal artery stenosis Renovascular hypertension Carotid artery stenosis Fever Constipation Brachydactyly Generalized neonatal hypotonia Proteinuria Colpocephaly Hearing impairment Sensorineural hearing impairment Hypoplasia of the corpus callosum Intellectual disability, mild Polymicrogyria Bilateral sensorineural hearing impairment Heterotopia Congenital sensorineural hearing impairment Cortical dysplasia Partial agenesis of the corpus callosum Severe sensorineural hearing impairment Arachnoid cyst Cerebellar dysplasia Epiphyseal stippling Prelingual sensorineural hearing impairment Dysplastic corpus callosum Gray matter heterotopias Large foramen magnum Low-set ears Hepatomegaly Wide nasal bridge Areflexia High forehead Feeding difficulties in infancy Flat face Bradycardia Polycystic kidney dysplasia Hydronephrosis Stage 5 chronic kidney disease Osteopenia Difficulty running Lower limb muscle weakness Lumbar hyperlordosis Frequent falls Reduced tendon reflexes Poor head control Easy fatigability Nasal speech Gowers sign Toe walking Increased variability in muscle fiber diameter Generalized amyotrophy Difficulty climbing stairs Thoracic scoliosis Pectus excavatum Aortic root aneurysm Lower limb amyotrophy Central hypoventilation Pes valgus Sinus tachycardia Reduced systolic function Fatiguable weakness of proximal limb muscles Short stature Scoliosis Myopia Abnormality of the dentition Delayed skeletal maturation Facial palsy Myopathy Nephropathy Enuresis Hematuria Sepsis Urinary incontinence Recurrent urinary tract infections Polydipsia Clubbing Keratitis Polyuria Hydroureter Acute kidney injury Keratoconjunctivitis sicca Dysuria Wolff-Parkinson-White syndrome High palate Neurogenic bladder Urinary retention Pyelonephritis Facial grimacing Urethral stenosis Mild proteinuria Enuresis nocturna Urethral obstruction Urethral valve Encopresis Abnormal facial expression Nocturnal lagophthalmos Muscle weakness Cervical spine instability



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