Abnormal facial shape, and Spina bifida

Diseases related with Abnormal facial shape and Spina bifida

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


Top matches:

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 ISOLATED KLIPPEL-FEIL SYNDROME


Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Low match ISOLATED HEMIHYPERPLASIA


Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

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Other less relevant matches:

Low match DWARFISM WITH TALL VERTEBRAE


Related symptoms:

  • Short stature
  • Depressed nasal bridge
  • Intrauterine growth retardation
  • Frontal bossing
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about DWARFISM WITH TALL VERTEBRAE

Low match BLEPHARO-CHEILO-ODONTIC SYNDROME


Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

BLEPHARO-CHEILO-ODONTIC SYNDROME Is also known as lagophthalmia with bilateral cleft lip and palate|clefting, ectropion, and conical teeth|ectropion, inferior, with cleft lip and/or palate|lagophthalmia-cleft lip and palate syndrome|bcd syndrome|blepharocheilodontic syndrome|elschnig syndrome|bcds|elschi

Related symptoms:

  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape
  • Cleft palate
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHARO-CHEILO-ODONTIC SYNDROME

Low match CLOVES SYNDROME


CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.

CLOVES SYNDROME Is also known as cloves syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome|clove syndrome|congenital lipomatous overgrowth,

Related symptoms:

  • Seizures
  • Scoliosis
  • Nystagmus
  • Cataract
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CLOVES SYNDROME

Low match LETHAL MULTIPLE PTERYGIUM SYNDROME


Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.

LETHAL MULTIPLE PTERYGIUM SYNDROME Is also known as lmps|pterygium syndrome, multiple, lethal type|autosomal recessive lethal multiple pterygium syndrome

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL MULTIPLE PTERYGIUM SYNDROME

Low match JOUBERT SYNDROME 14; JBTS14


Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

Low match TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME


Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

Low match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B


Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Spina bifida

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases
Hernia Uncommon - Between 30% and 50% cases
Overgrowth Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Myelomeningocele Scoliosis Downslanted palpebral fissures Inguinal hernia Cleft palate Facial asymmetry Neoplasm Global developmental delay Spina bifida occulta Vertebral fusion Abnormality of the skeletal system High palate Intellectual disability, mild Long philtrum

Rare Symptoms - Less than 30% cases


Intrauterine growth retardation Pes planus Congenital diaphragmatic hernia Joint hypermobility Joint dislocation Seizures Hydrocephalus Coloboma Abnormality of the dentition Nephroblastoma Meningocele Depressed nasal bridge Generalized hypotonia Hemihypertrophy Strabismus Deeply set eye Pectus excavatum Malar flattening Abnormality of the eye Flexion contracture Agenesis of corpus callosum Posteriorly rotated ears High forehead Renal cyst Renal hypoplasia/aplasia Flat face Sensorineural hearing impairment Ventricular septal defect Short neck Micrognathia Abnormality of cardiovascular system morphology Polydactyly Conductive hearing impairment Cleft lip Microcephaly Abnormality of the pinna Hearing impairment Cleft upper lip Anal atresia Hypothyroidism Nystagmus Severe short stature Postaxial polydactyly Ptosis Growth delay Short stature Capillary malformation Abnormality of eye movement Microphthalmia Splayed toes Epididymal cyst Highly arched eyebrow Encephalomalacia Prominent nasal bridge Macrodactyly Hemimegalencephaly Absent speech Cranial asymmetry Short philtrum Epidermal nevus Venous malformation Pneumonia Irritability Enlarged peripheral nerve Amyoplasia Intellectual disability, severe Akinesia Fever Edema Polyhydramnios Pulmonary hypoplasia Dandy-Walker malformation Lymphedema Increased susceptibility to fractures Pterygium Short finger Hypertension Cystic hygroma Thin ribs Malignant hyperthermia Fetal akinesia sequence Multiple pterygia Hypoplastic heart Abnormal cervical curvature Ataxia Pelvic mass Depressed nasal ridge Astigmatism Cerebellar vermis hypoplasia Aortic aneurysm Dilatation Prominent forehead Proptosis Joint laxity Scarring Arachnodactyly Bulbous nose Recurrent fractures Convex nasal ridge Oligohydramnios Bradycardia Narrow palpebral fissure Cutis laxa Emphysema Renal malrotation Aortic root aneurysm Soft skin Abnormality of the vasculature Arterial stenosis Pulmonary insufficiency Narrow naris Biventricular hypertrophy Arterial tortuosity Intussusception Multiple joint dislocation Prominence of the premaxilla Pulmonary artery aneurysm Generalized arterial tortuosity Bifid ureter Long hallux Open mouth Talipes Encephalocele Tented upper lip vermilion Molar tooth sign on MRI Occipital encephalocele Multiple renal cysts Breathing dysregulation Morning glory anomaly Macrocephaly Talipes equinovarus Midface retrusion Abnormal heart morphology Macrotia Protruding ear Spinal dysraphism Retinal coloboma Thick vermilion border Neutropenia Macroglossia Round face Intestinal malrotation Mitral valve prolapse Renal dysplasia Tall stature Large hands Bowing of the legs Large for gestational age Enlarged kidney Long foot Varicose veins Cranial hyperostosis Abnormal hair quantity Tethered cord Asymmetry of the thorax Cryptorchidism Carcinoma Bicuspid aortic valve Skeletal muscle hypertrophy Neurofibromas Multiple lipomas Impaired pain sensation Increased circulating cortisol level Communicating hydrocephalus Pheochromocytoma Adrenocortical adenoma Asymmetric growth Hepatoblastoma Decreased cervical spine mobility Embryonal neoplasm Leiomyosarcoma Hemifacial hypertrophy Hemiareflexia Frontal bossing Anteverted nares Hypospadias Delayed skeletal maturation Clinodactyly of the 5th finger Mandibular prognathia Hyperlordosis Small for gestational age Limited neck range of motion Abnormal vertebral segmentation and fusion Dolichocephaly Webbed neck Wide nasal bridge Coarse facial features Intellectual disability, moderate Synophrys Delayed puberty Growth hormone deficiency Aspiration Adrenal insufficiency Hypopituitarism Panhypopituitarism Cognitive impairment Abnormality of the kidney Wide intermamillary distance Cervical C2/C3 vertebral fusion Abnormality of the ribs Low posterior hairline Hemiplegia/hemiparesis Abnormality of the vertebral column Sprengel anomaly Abnormal cranial nerve morphology Ectopic anus Fused cervical vertebrae Short sternum Abnormality of the shoulder Abnormal sacrum morphology Congenital muscular torticollis Aplasia of the ulna Hip dislocation Thick eyebrow Lower limb asymmetry Cataract Bilateral cleft lip and palate High anterior hairline Conical tooth Distichiasis Unilateral cleft lip Epidermoid cyst Meningoencephalocele Thyroid agenesis Ectropion of lower eyelids Dermoid cyst Euryblepharon Multiple rows of eyelashes Splenomegaly Bilateral cleft lip Constipation Hypoglycemia Congenital cataract Nevus Renal agenesis Generalized-onset seizure Insulin resistance Horizontal nystagmus Sandal gap Partial agenesis of the corpus callosum Lipoatrophy Lipoma Abnormal eyelid morphology Overfolded helix Triangular face Clinodactyly Decreased testicular size Short ribs Pointed chin Coxa vara Scapular winging Short thorax Slender long bone Short 5th finger Hypoplastic pelvis Increased vertebral height Blindness Syndactyly Upslanted palpebral fissure Ectropion Sparse hair Finger syndactyly Carious teeth Oral cleft Hypodontia Ectodermal dysplasia Small nail Choanal atresia Opacification of the corneal stroma Cutaneous syndactyly Oligodontia Abnormality of vision Reduced number of teeth Pulmonary artery dilatation



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