Depressed nasal bridge, and Neonatal hypotonia

Diseases related with Depressed nasal bridge and Neonatal hypotonia

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


Top matches:

High match PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A


The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. 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 4 (CG4, equivalent to CG6 and CGC) have mutations in the PEX6 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38


MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

High 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

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Other less relevant matches:

High match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

High match FG SYNDROME 4; FGS4


FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by Piluso et al., 2003).The name 'FG' derives from the first description of the disorder (FGS1 ) by Opitz and Kaveggia (1974), who named it 'FG syndrome' according to the Opitz system of using initials of patients' surnames. For a phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).FGS4 is typically associated with missense or hypomorphic mutations in the CASK gene. See also the more severe disorder MICPCH (OMIM ), an allelic disorder caused by complete loss-of-function mutations in the CASK gene (Tarpey et al., 2009).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 4; FGS4

High match PONTOCEREBELLAR HYPOPLASIA TYPE 3


Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

PONTOCEREBELLAR HYPOPLASIA TYPE 3 Is also known as pch without dyskinesia|cerebellar atrophy with progressive microcephaly|clam|pch with optic atrophy|pch3

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 3

High match TEMPLE-BARAITSER SYNDROME


Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

TEMPLE-BARAITSER SYNDROME Is also known as severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|mental retardation, severe, and absent nails of hallux and pollex|tmbts

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMPLE-BARAITSER SYNDROME

High match HARTSFIELD SYNDROME


Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

High match EVEN-PLUS SYNDROME


EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome ({600373}; Royer-Bertrand et al., 2015).

EVEN-PLUS SYNDROME Is also known as epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome|epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EVEN-PLUS SYNDROME

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

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Neonatal hypotonia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Abnormal facial shape Hearing impairment Intellectual disability, severe Microcephaly Low-set ears Downslanted palpebral fissures Long philtrum Downturned corners of mouth Brachycephaly Short neck Upslanted palpebral fissure Short stature Aggressive behavior Cerebral atrophy Strabismus Hyperactivity High palate Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases


Midface retrusion Cerebellar hypoplasia Wide nose Nystagmus Scoliosis Intellectual disability, profound Synophrys Polydactyly Intrauterine growth retardation Cryptorchidism Cleft palate Bilateral sensorineural hearing impairment Agenesis of corpus callosum Open mouth Frontal upsweep of hair Spasticity Hyperreflexia Optic atrophy Anteverted nares Hypoplasia of the corpus callosum Full cheeks Hypoplasia of the brainstem Hypodontia Muscular hypotonia Respiratory insufficiency Growth delay Intellectual disability, progressive Ptosis Poor head control Severe global developmental delay Absent speech Respiratory failure Generalized tonic-clonic seizures Deeply set eye Wide mouth Poor speech Hepatomegaly Sparse hair Feeding difficulties in infancy Long palpebral fissure Short nose Osteopenia Abnormality of the dentition Severe short stature Abnormality of nervous system morphology Atrial septal defect Delayed skeletal maturation Microtia High forehead Abnormality of the pinna Tapetoretinal degeneration Postnatal growth retardation Lobar holoprosencephaly CNS demyelination Decreased light- and dark-adapted electroretinogram amplitude Anal atresia Flat face Highly arched eyebrow No social interaction Hypernatremia Hypoplasia of the frontal bone Diabetes insipidus Cleft upper lip Oral cleft Ectodermal dysplasia Hypotelorism Split hand Encephalocele Holoprosencephaly Cutaneous syndactyly Aplasia/Hypoplasia of the corpus callosum Non-midline cleft lip Duplication of thumb phalanx Abnormality of digit Absent septum pellucidum Ectrodactyly Aplasia/Hypoplasia of the radius Megalocornea Gonadotropin deficiency Central diabetes insipidus Long hallux Semilobar holoprosencephaly Vesicoureteral reflux Abnormality of visual evoked potentials Depressed nasal ridge Oligohydramnios Dysphagia Dysplasia of the femoral head Brain atrophy Failure to thrive Tetraplegia Retinal degeneration Myopia Gait disturbance Abnormality of the cerebral white matter Frontal bossing Blindness Dysplastic corpus callosum Neurological speech impairment Retinopathy Hypertonia Dystonia Abnormality of metabolism/homeostasis Babinski sign Irritability Myoclonus Developmental regression Elevated hepatic transaminase Craniosynostosis Peripheral demyelination Renal hypoplasia Metaphyseal dysplasia EEG abnormality Inflammatory abnormality of the skin Inverted nipples Recurrent urinary tract infections Abnormality of the outer ear Deep philtrum Patent foramen ovale Epiphyseal dysplasia Hand polydactyly Overlapping toe Aplasia cutis congenita Pigmentary retinopathy Abnormal electroretinogram Hypoplasia of the odontoid process Leukodystrophy Atopic dermatitis Bifid nasal tip Spastic tetraplegia Coronal cleft vertebrae Generalized-onset seizure Anotia Vertebral clefting Hypoplastic helices Short thumb Protruding ear Intellectual disability, mild Acidosis Postaxial polydactyly Metabolic acidosis Renal tubular acidosis Proximal renal tubular acidosis Micrognathia Macrocephaly Tremor Behavioral abnormality Constipation Long toe Prominent forehead Reduced visual acuity Unsteady gait Pachygyria Relative macrocephaly Ataxia Flexion contracture Visual impairment Talipes equinovarus Edema Inappropriate laughter Tics Encephalopathy Thin upper lip vermilion Renal cyst Epiphyseal stippling Epicanthus inversus Generalized neonatal hypotonia Calcific stippling Everted lower lip vermilion Tented upper lip vermilion Pain Motor delay Blepharophimosis Fair hair Short philtrum Broad forehead Hypermetropia Astigmatism Broad nasal tip Fine hair Narrow palpebral fissure Language impairment Long fingers Self-mutilation Cerebellar atrophy Proptosis Low-set, posteriorly rotated ears Tented philtrum Global brain atrophy Poor eye contact Short columella Low hanging columella High anterior hairline Thick nasal alae Small thenar eminence Pseudoepiphyses Flat forehead Pseudoepiphysis of the thumb Broad hallux Absent nail of hallux Hypoplastic thumbnail Syndactyly Microphthalmia Hypospadias Posteriorly rotated ears Hypogonadism Micropenis Telecanthus Cleft lip Anonychia Myopathic facies Macrotia Progressive encephalopathy Muscular hypotonia of the trunk Dyskinesia High, narrow palate Underdeveloped nasal alae Hypsarrhythmia Decreased body weight Progressive microcephaly Elbow flexion contracture Thoracic scoliosis Hypoplasia of the pons Adducted thumb Pontocerebellar atrophy Malar flattening Short distal phalanx of finger Thick vermilion border Tapered finger Prominent nose Wide intermamillary distance Small nail Broad thumb Low anterior hairline Diffuse hepatic steatosis



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