Depressed nasal bridge, and Irritability

Diseases related with Depressed nasal bridge and Irritability

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Irritability that can help you solving undiagnosed cases.


Top matches:

High match SQUALENE SYNTHASE DEFICIENCY; SQSD


Squalene synthase deficiency is an autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids (Coman et al., 2018). Squalene synthase deficiency has been reported in 3 patients from 2 families.

SQUALENE SYNTHASE DEFICIENCY; SQSD Is also known as neurodevelopmental disorder with low cholesterol and abnormal urine organic acids

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about SQUALENE SYNTHASE DEFICIENCY; SQSD

High match ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

High match PSEUDOHYPOPARATHYROIDISM TYPE 1B


Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

PSEUDOHYPOPARATHYROIDISM TYPE 1B Is also known as php ib

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1B

Mendelian

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

Learn more

Other less relevant matches:

High match PONTOCEREBELLAR HYPOPLASIA TYPE 7


Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

High match VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A


Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.VDDR2B (OMIM ) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction.For a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A ).

VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A Is also known as generalized resistance to 1,25-dihydroxyvitamin d|rickets-alopecia syndrome|vitamin d-dependent rickets, type 2a, with or without alopecia|vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|hypocalcemic vitamin d-

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A

High match PSEUDOHYPOPARATHYROIDISM TYPE 1C


Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).

PSEUDOHYPOPARATHYROIDISM TYPE 1C Is also known as php ic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1C

High match PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY


Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

High match PSEUDOHYPOPARATHYROIDISM TYPE 1A


Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).

PSEUDOHYPOPARATHYROIDISM TYPE 1A Is also known as albright hereditary osteodystrophy-php syndrome ia|aho-php syndrome ia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1A

High match PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A


Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ resistance to parathyroid hormone (PTH ). In addition to PTH resistance, PHP Ia is characterized by resistance to other hormones, including thyroid-stimulating hormone (TSH; see TSHB, {188540}) and gonadotropins. PHP Ia is associated with a constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation (Mantovani and Spada, 2006).In contrast, pseudopseudohypoparathyroidism (PPHP ) is characterized by the physical findings of AHO but without hormone resistance (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006).PHP1A occurs only after maternal inheritance of the molecular defect, whereas PPHP occurs only after paternal inheritance of the molecular defect (Davies and Hughes, 1993; Wilson et al., 1994). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele. See INHERITANCE and PATHOGENESIS sections.

PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A Is also known as albright hereditary osteodystrophy with multiple hormone resistance|php ia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A

High match CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1


Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Irritability

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Elevated circulating parathyroid hormone level Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Depressed nasal bridge and Irritability. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hyporeflexia Dyspnea Delayed eruption of teeth Full cheeks Round face Hypoplasia of dental enamel Hypocalcemia Epicanthus Hypocalcemic seizures Global developmental delay Cataract Laryngeal dystonia Cognitive impairment Brachydactyly Sensorineural hearing impairment Obesity Depressivity Hypergonadotropic hypogonadism Anxiety Paresthesia Pituitary resistance to thyroid hormone Muscle cramps Chest pain Pseudohypoparathyroidism Low urinary cyclic AMP response to PTH administration Hypocalcemic tetany Short metacarpal Growth hormone deficiency Myoclonic spasms Increased bone mineral density Confusion Conjunctivitis Prolonged QT interval Hyperphosphatemia Calcinosis Short stature Abdominal symptom Spasticity Failure to thrive Hypoplasia of the corpus callosum Autoimmune antibody positivity Basal ganglia calcification Hypogonadism Micrognathia Hypertonia Wide nasal bridge Reduced bone mineral density Generalized hypotonia Short metatarsal Polyphagia Cryptorchidism Oligomenorrhea Osteoma cutis Constrictive median neuropathy Short 5th metacarpal Prolactin deficiency Ectopic ossification Short 3rd metacarpal Short fifth metatarsal Strabismus Short 4th metacarpal Broad distal phalanx of the thumb Choroid plexus calcification

Rare Symptoms - Less than 30% cases


Abnormality of the cerebral white matter Macrotia Myoclonus Hyperreflexia Dystonia Optic atrophy High palate Respiratory insufficiency Flat occiput Hypospadias Intellectual disability, severe Broad 1st metacarpal Hypertension Low-set ears Cerebral calcification Hypothyroidism Osteoporosis Abnormality of the skeletal system Generalized-onset seizure Carious teeth Choreoathetosis Hyperostosis frontalis interna Frontal bossing Retrognathia Thickened calvaria Hearing impairment Spinal cord compression Band keratopathy Abnormal platelet function Elevated calcitonin Muscular hypotonia Apnea Tetany Hyperparathyroidism Growth delay Anteverted nares Renal insufficiency Abnormality of the dentition Gliosis Cerebral atrophy Polydactyly Pigmentary retinopathy Neurological speech impairment Severe global developmental delay Retinal degeneration Hypodontia CNS demyelination Decreased light- and dark-adapted electroretinogram amplitude Tetraplegia Brain atrophy Peripheral demyelination Polyhydramnios Mandibular prognathia Bilateral sensorineural hearing impairment Spastic tetraplegia Leukodystrophy Developmental regression Intellectual disability, progressive Abnormal electroretinogram Abnormality of visual evoked potentials Inverted nipples Hand polydactyly Retinopathy EEG abnormality Neonatal hypotonia Falls Blindness Hypohidrosis Dehydration Abnormality of metabolism/homeostasis Cyanosis Underdeveloped nasal alae Limitation of joint mobility Sudden cardiac death Tapered finger Highly arched eyebrow Wide nose Short palm Dolichocephaly Elevated hepatic transaminase Attention deficit hyperactivity disorder Blepharophimosis Feeding difficulties in infancy Camptodactyly Facial palsy Pes planus Kyphoscoliosis Babinski sign Brachycephaly Respiratory failure Osteopenia Abnormality of nervous system morphology Tapetoretinal degeneration Elbow flexion contracture No social interaction Velopharyngeal insufficiency Feeding difficulties Episodic fever Delayed speech and language development Fever Malignant hyperthermia Narrow nose Talipes equinovarus Trismus Central apnea Large face Respiratory distress Pain Kyphosis Temperature instability Short nose Long philtrum Facial tics Hypopnea Malar flattening Smooth tongue Unexplained fevers Hypernatremic dehydration Clinodactyly Flexion contracture Interphalangeal joint contracture of finger Narrow mouth Hyperhidrosis Diffuse hepatic steatosis Bilateral camptodactyly Adducted thumb Nasal speech Involuntary movements Radial deviation of finger Keratitis Overlapping toe Disproportionate tall stature Opisthotonus Limited elbow extension Diarrhea Cleft palate Hypoglycemia Subcutaneous nodule Short toe Short finger Congenital hypothyroidism Exocrine pancreatic insufficiency Parathyroid hyperplasia Shortening of all distal phalanges of the fingers Subcutaneous calcification Scoliosis Acute kidney injury Recurrent urinary tract infections Bowing of the legs Dysphagia Hypoargininemia Thick lower lip vermilion Pancreatitis Hyperammonemia Acute hepatic failure Alkalosis Episodic ataxia Cerebral edema Episodic vomiting Wide nasal base Paranoia Oroticaciduria Respiratory alkalosis Protein avoidance Coma Hyperglutaminemia Episodic ammonia intoxication Low plasma citrulline Dyskinesia Ectopic calcification Diaphyseal sclerosis Increased bone density with cystic changes Cortical subperiosteal resorption of humeral metaphyses Microcephaly Muscle weakness Ventriculomegaly Absent speech Aciduria Postaxial polydactyly Upslanted palpebral fissure Profound global developmental delay Visual impairment Syndactyly Posteriorly rotated ears Low-set, posteriorly rotated ears Toe syndactyly Dry skin Polymicrogyria Cutaneous photosensitivity Cerebral visual impairment Bicuspid aortic valve Optic nerve hypoplasia Bilateral cryptorchidism Ataxia Hepatic failure Peripheral neuropathy Edema Vomiting Headache Abnormality of cardiovascular system morphology Encephalopathy Abnormal heart morphology Thin upper lip vermilion Carcinoma Mental deterioration Stroke Lethargy Smooth philtrum Cerebellar hypoplasia Micropenis Gait disturbance Widely patent fontanelles and sutures Femoral bowing Tibial bowing Osteomalacia Protuberant abdomen Premature loss of teeth Delayed epiphyseal ossification Thin bony cortex Alopecia totalis Alopecia universalis Generalized aminoaciduria Difficulty standing Fibular bowing Enlargement of the wrists Metaphyseal irregularity Abdominal wall muscle weakness Bulging epiphyses Enlargement of the ankles Sparse bone trabeculae Secondary hyperparathyroidism Increased serum 1,25-dihydroxyvitamin D3 Deformed rib cage Bulging of the costochondral junction Subperiosteal bone resorption Hypertelorism Hepatomegaly Myopia Hypophosphatemia Rickets Muscular hypotonia of the trunk Nevus flammeus Spastic paraplegia Chorea Nevus Delayed myelination Esotropia Ambiguous genitalia Progressive microcephaly Fasciculations Oculomotor apraxia Prominent supraorbital ridges Clitoral hypertrophy Hypoplasia of the brainstem Hypoplasia of the pons Elevated alkaline phosphatase Thick upper lip vermilion Sex reversal Microphallus Olivopontocerebellar hypoplasia Abnormal facial shape Motor delay Alopecia Difficulty walking Papule Recurrent fractures Abnormality of the skin Bone pain Aminoaciduria Cold-induced sweating



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Small for gestational age, related diseases and genetic alterations Intellectual disability, severe and Kyphosis, related diseases and genetic alterations Fever and Vertigo, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more