Abnormal facial shape, and Anxiety

Diseases related with Abnormal facial shape and Anxiety

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


Top matches:

Medium match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2


PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 Is also known as cushing syndrome, adrenal, due to ppnad2|pigmented micronodular adrenocortical disease, primary, 2

Related symptoms:

  • Hypertension
  • Kyphosis
  • Depressivity
  • Osteoporosis
  • Osteopenia


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF


Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Medium match MENTAL RETARDATION, X-LINKED 30; MRX30


MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47|mrx47

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 30; MRX30

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Other less relevant matches:

Medium match MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE


Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.

MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE Is also known as facial dysmorphism, intellectual disability, and primordial dwarfism|alazami syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE

Medium match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1


Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1 ), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical DiseaseSee also PPNAD2 (OMIM ), caused by mutation in the PDE11A gene (OMIM ) on chromosome 2q31; PPNAD3 (OMIM ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13; and PPNAD4 (OMIM ), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (OMIM ).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 Is also known as pigmented micronodular adrenocortical disease, primary, 1|cushing syndrome, adrenal, due to ppnad1|adrenocortical nodular dysplasia, primary

Related symptoms:

  • Neoplasm
  • Hypertension
  • Kyphosis
  • Obesity
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Medium match SOTOS SYNDROME 2; SOTOS2


SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 2; SOTOS2

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP


IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49


Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

Medium match XQ25 MICRODUPLICATION SYNDROME


Xq25 duplication syndrome is an X-linked neurodevelopmental disorder characterized by delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected (summary by Leroy et al., 2016).

XQ25 MICRODUPLICATION SYNDROME Is also known as xq25 microtriplication|dup(x)(q25)

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about XQ25 MICRODUPLICATION SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hyperactivity Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Microcephaly Thin upper lip vermilion Autism Anteverted nares Low-set ears Obsessive-compulsive behavior Absent speech Behavioral abnormality Short stature Psychosis Autistic behavior Agitation

Rare Symptoms - Less than 30% cases


Narrow mouth Ventriculomegaly Posteriorly rotated ears Malar flattening Wide nasal bridge Strabismus Hypermetropia Mandibular prognathia Short philtrum Everted lower lip vermilion Scoliosis Schizophrenia Open mouth Wide mouth Thick vermilion border Poor speech Wide nose Constipation Broad-based gait Widely spaced teeth Kyphosis Broad forehead Spasticity Feeding difficulties Aggressive behavior Attention deficit hyperactivity disorder Gastroesophageal reflux High forehead Frontal bossing Hypoplasia of the corpus callosum Hypertension Macrotia Thin skin Depressed nasal bridge Downslanted palpebral fissures Primary hypercortisolism Pigmented micronodular adrenocortical disease Mood changes Decreased circulating ACTH level Adrenal hyperplasia Increased circulating cortisol level Smooth philtrum Striae distensae Highly arched eyebrow Triangular face Truncal obesity Paradoxical increased cortisol secretion on dexamethasone suppression test Hypertelorism Round face Bruising susceptibility Depressivity Mental deterioration Intellectual disability, severe Osteopenia Osteoporosis Hyperlordosis Brachydactyly Advanced eruption of teeth Pain Optic atrophy Hyperreflexia Fever Myopia Low-set, posteriorly rotated ears Small nail Atrial septal defect Vomiting Short foot Small hand Long nose Thick upper lip vermilion Sleep disturbance Fusion of the left and right thalami Holoprosencephaly Long eyelashes Epicanthus Spastic tetraplegia Hypotelorism Cerebral calcification Cutis marmorata Epileptic encephalopathy Cerebellar hypoplasia Thick eyebrow Short distal phalanx of finger Dandy-Walker malformation Hydrocephalus Prominent nose Tetraplegia Cerebellar vermis hypoplasia Gingival overgrowth Sparse eyebrow Neurodevelopmental delay Severe global developmental delay Muscular hypotonia of the trunk EEG abnormality Coarse facial features Myoclonus Encephalopathy Hypertonia Long fingers Muscle weakness Accelerated skeletal maturation Flat face Deeply set eye Prominent forehead Severe short stature Failure to thrive Long ear Short attention span Restlessness Delayed gross motor development Drooling Upslanted palpebral fissure Neoplasm Short nose High palate Obsessive-compulsive trait Hyperparathyroidism Unilateral renal agenesis Nephrocalcinosis Generalized-onset seizure Focal-onset seizure Thin vermilion border Intellectual disability, moderate Decreased body weight Obesity Coxa valga Short chin Narrow face Overgrowth Long face Astigmatism Pectus excavatum Macrocephaly Motor delay Nystagmus Impulsivity Hip dysplasia Cerebral cortical atrophy Tapered finger Prominent nasal bridge Umbilical hernia Hernia Cerebral atrophy Dystonia Moon facies Adrenocortical carcinoma Hypertrichosis Carcinoma Facial hypotonia



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