Abnormal facial shape, and Broad forehead

Diseases related with Abnormal facial shape and Broad forehead

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


Top matches:

Medium match FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME


Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.

FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME Is also known as fils syndrome

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Macrocephaly
  • Malar flattening


SOURCES: ORPHANET OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME

Medium match SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME


Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match POLYVALVULAR HEART DISEASE SYNDROME


Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

Medium 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

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA


Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Medium match MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH


Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: MESH OMIM MENDELIAN

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Medium match CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

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 HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Broad forehead

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hydrocephalus Astigmatism Myopia Short nose High palate Seizures Failure to thrive Ptosis Deeply set eye

Rare Symptoms - Less than 30% cases


Depressed nasal bridge High forehead Intellectual disability, severe Deep philtrum Sparse hair Short philtrum Hypermetropia Atrial septal defect Broad nasal tip Fine hair Anteverted nares Scaphocephaly Low-set ears Dolichocephaly Pulmonic stenosis Abnormality of the skeletal system Mitral valve prolapse Dental crowding Pain Short neck Downslanted palpebral fissures Pointed chin Cleft palate Scoliosis Generalized hypotonia Strabismus Hyperactivity Coarse facial features Hyperlordosis Cognitive impairment Poor speech Long face Cortical tubers Arthropathy Megalencephaly Osteoarthritis Bilateral ptosis Sparse eyebrow Absent eyebrow Curly hair Delayed speech and language development Hemangioma Abnormality of the musculature Short thorax Abnormality of epiphysis morphology Coxa vara Celiac disease Peripheral axonal neuropathy Ichthyosis Adrenal medullary hypoplasia Low-set, posteriorly rotated ears Proptosis Hyperkeratosis Posteriorly rotated ears Patellar dislocation Cardiomyopathy Optic atrophy Depressivity Mandibular prognathia Patellar subluxation Peripheral neuropathy Psychosis Limitation of joint mobility Abnormal cardiac septum morphology Neuropathic arthropathy Hypotelorism Midface retrusion Upslanted palpebral fissure Macrotia Coloboma Synophrys Oral cleft Microcornea Narrow forehead Exotropia Microcephaly Holoprosencephaly Trigonocephaly Absent thumb Abnormality of digit Facial cleft Single median maxillary incisor Cyclopia Proboscis Small posterior fossa Microphthalmia Narrow maxilla Flexion contracture Anal atresia Intrauterine growth retardation Ventricular septal defect Pectus excavatum Abnormal heart morphology Constipation Joint laxity Camptodactyly Flat face Carious teeth Arachnodactyly Soft skin Intestinal malrotation Coarctation of aorta Thin skin Abnormality of the genital system Finger clinodactyly Short chin Cutis marmorata Long nose Narrow nose Retinal detachment Rhabdomyosarcoma Micromelia Long fingers Wide nasal bridge Thin upper lip vermilion Neonatal hypotonia Wide mouth Blepharophimosis Narrow palpebral fissure Language impairment Long palpebral fissure Postnatal macrocephaly Self-mutilation Fair hair Tics Long toe Inappropriate laughter Micrognathia Arrhythmia Delayed skeletal maturation Motor delay Delayed gross motor development Joint hyperflexibility Relative macrocephaly Malar flattening Immunodeficiency Recurrent infections Recurrent respiratory infections Autoimmunity Telangiectasia Bone pain Meningitis Telangiectases of the cheeks Focal-onset seizure Feeding difficulties Tremor Frontal bossing Gastroesophageal reflux Microtia Neurological speech impairment Generalized myoclonic seizures Delayed myelination Abnormality of the pinna Prominent nose Narrow chest Congenital giant melanocytic nevus Narrow nasal bridge Calvarial skull defect Periorbital fullness Thick hair Narrow nasal ridge Cutaneous melanoma Epidermal nevus Prominence of the premaxilla Nevus spillus Melanocytic nevus Hearing impairment Nystagmus Cataract Talipes equinovarus Kyphosis Glaucoma Skeletal dysplasia Platyspondyly Hypermelanotic macule Sarcoma Abnormality of the skin Abnormality of skin pigmentation Aortic valve stenosis Tricuspid regurgitation Abnormal heart valve morphology Neoplasm Long philtrum Prominent forehead Papule Pruritus Everted lower lip vermilion Melanoma Full cheeks Nevus Round face Open mouth Subcutaneous nodule Generalized hirsutism Neoplasm of the skin Hypopigmented skin patches Exencephaly



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Otitis media, related diseases and genetic alterations Skeletal muscle atrophy and Recurrent infections, related diseases and genetic alterations Cardiomyopathy and Small nail, related diseases and genetic alterations Failure to thrive and Holoprosencephaly, related diseases and genetic alterations Hypertension and Optic atrophy, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more