Depressed nasal bridge, and Sloping forehead

Diseases related with Depressed nasal bridge and Sloping forehead

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

Top matches:

Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome is a rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about DIFFUSE CEREBRAL AND CEREBELLAR ATROPHY-INTRACTABLE SEIZURES-PROGRESSIVE MICROCEPHALY SYNDROME

Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013).For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES Is also known as urban-rifkin-davis syndrome|arcl1c|autosomal recessive cutis laxa type 1c|urds|cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Depressed nasal bridge


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES

NMIHBA is a severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination (summary by Zollo et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA

Other less relevant matches:

Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.

GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Is also known as goldberg-shprintzen megacolon syndrome|goshs|megacolon-microcephaly syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

High match OHDO SYNDROME

OHDO SYNDROME Is also known as ohdo blepharophimosis syndrome|mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OHDO SYNDROME

High match KEUTEL SYNDROME

Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

KEUTEL SYNDROME Is also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|pulmonic stenosis, brachytelephalangism, and calcification of cartilages

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEUTEL SYNDROME

High match DUBOWITZ SYNDROME

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Sloping forehead

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Macrotia Hypertelorism Midface retrusion Ventricular septal defect Progressive microcephaly Hearing impairment Low-set ears Micrognathia Wide nasal bridge Hypsarrhythmia Hydronephrosis Muscular hypotonia Abnormal facial shape Protruding ear Small hand Respiratory failure Cleft palate Optic atrophy High palate Malar flattening Cryptorchidism Abnormality of the dentition Epicanthus Clinodactyly of the 5th finger Cerebral atrophy Ptosis Recurrent respiratory infections Hypoplasia of the corpus callosum Cerebellar atrophy Cerebral visual impairment Tapered finger Delayed myelination

Rare Symptoms - Less than 30% cases

Microtia Submucous cleft hard palate Abnormality of the antihelix Talipes equinovarus Cerebellar hypoplasia Absent speech Blindness Cataract Short philtrum Abnormality of cardiovascular system morphology Pulmonic stenosis Delayed eruption of teeth Narrow chest Rectal prolapse Tetraparesis Spastic tetraparesis Blepharophimosis Hydrocephalus Hemivertebrae Broad forehead Hypoplasia of the maxilla Brachydactyly Joint hyperflexibility Sinusitis Osteoporosis Macrocephaly Pulmonary artery stenosis Bulbous nose Constipation Pulmonary hypoplasia Sparse hair Focal-onset seizure Narrow forehead Joint laxity Hypotelorism Telecanthus Hypospadias Intellectual disability, mild Sparse scalp hair Retrognathia Gastroesophageal reflux Anteverted nares Dilatation Long philtrum Respiratory distress Asthma Thick vermilion border Large fontanelles Craniosynostosis Bladder diverticulum Peripheral pulmonary artery stenosis Severe global developmental delay Hyperreflexia Spina bifida occulta Sparse and thin eyebrow Ventriculomegaly Emphysema Patent foramen ovale Short foot Posteriorly rotated ears Cutis laxa Low-set, posteriorly rotated ears Sandal gap Specific learning disability Short palpebral fissure Interphalangeal joint contracture of finger Respiratory tract infection Neoplasm of the tongue Carcinoma Hypoplasia of teeth Abnormality of the cheek Ectopic thyroid Thyroid hypoplasia Abnormal nasolacrimal system morphology Hypertension Alopecia Stenosis of the external auditory canal Bilateral single transverse palmar creases Atrioventricular canal defect Long nose Prominent occiput Adducted thumb Scrotal hypoplasia Thyroid agenesis Widely spaced teeth Feeding difficulties Prominent nose Aganglionic megacolon Bifid scrotum Sparse eyebrow Abnormality of the genitourinary system Oligodontia Pointed chin Long eyelashes Pachygyria Megalocornea Blue sclerae Optic disc pallor Wide intermamillary distance Highly arched eyebrow Everted lower lip vermilion Iris coloboma Thick eyebrow Hypoplasia of the brainstem Corneal erosion Bifid uvula Hypothyroidism Triangular face Thin vermilion border Smooth philtrum Abnormality of the foot Feeding difficulties in infancy Proteinuria Polyhydramnios Narrow mouth Corneal ulceration Severe short stature Patent ductus arteriosus Short nose Atrial septal defect Fever Infertility Failure to thrive Hypotrichosis Pulmonary artery hypoplasia Long face Wide mouth Eczema Lymphoma Abnormality of skin pigmentation Dry skin Malabsorption Toe syndactyly Attention deficit hyperactivity disorder Postnatal growth retardation Cutaneous photosensitivity Delayed skeletal maturation Pectus excavatum Thrombocytopenia Recurrent infections Respiratory insufficiency Intrauterine growth retardation Myopia Anemia Fine hair Broad thumb Neoplasm Delayed cranial suture closure Abnormality of female external genitalia Abnormality of neutrophils Sparse lateral eyebrow Hypoparathyroidism Acute lymphoblastic leukemia Anal stenosis Underdeveloped supraorbital ridges Aplasia/Hypoplasia of the thumb Metatarsus adductus Chronic diarrhea Cutis marmorata Hypoplastic toenails Sacral dimple Aplasia/Hypoplasia of the corpus callosum Abnormality of the fingernails Low anterior hairline Narrow face Wide anterior fontanel Strabismus Nystagmus Short distal phalanx of finger Leukodystrophy Aortic aneurysm Nasal speech Dermal atrophy Deep philtrum Growth abnormality Progressive hearing impairment Spontaneous abortion Short thumb Recurrent sinusitis Short phalanx of finger Recurrent otitis media Pulmonary arterial hypertension Cerebral calcification Memory impairment Otitis media Underdeveloped nasal alae Wide nose Mixed hearing impairment Epiphyseal stippling Cartilaginous ossification of larynx Obstructive lung disease Premature fusion of phalangeal epiphyses Cartilaginous ossification of nose Calcification of the auricular cartilage Costal cartilage calcification Soft, doughy skin Tracheal atresia Calcification of cartilage Arterial calcification Abdominal aortic aneurysm Irregular vertebral endplates Papillary thyroid carcinoma Short nail Shortening of all distal phalanges of the fingers Thyroid carcinoma Chronic obstructive pulmonary disease Recurrent bronchitis Short hallux Chronic sinusitis Polymicrogyria Postaxial polydactyly Synophrys Abnormality of the ribs Abnormality of the metacarpal bones Sleep apnea Coxa vara Abnormality of dental enamel Wormian bones Abnormality of epiphysis morphology Recurrent fractures Chronic otitis media High, narrow palate Genu valgum Carious teeth Skeletal dysplasia Mandibular prognathia Brachycephaly Frontal bossing Abnormality of pelvic girdle bone morphology Open bite Central hypotonia Dystrophic toenail Hypoplastic inferior ilia Rib segmentation abnormalities Cervical C2/C3 vertebral fusion Abnormal sacrum morphology Dimple chin Abnormality of the thumb Dystrophic fingernails Decreased skull ossification Increased number of teeth Hypoplastic scapulae Down-sloping shoulders Hypoplasia of the zygomatic bone Hearing abnormality Glossoptosis Sprengel anomaly Short clavicles Central hypoventilation Hypoventilation Short face Rhabdomyolysis Recurrent urinary tract infections Congenital diaphragmatic hernia Convex nasal ridge Umbilical hernia Inguinal hernia Hernia Growth delay Cerebellar vermis atrophy Laryngomalacia Cortical gyral simplification Agitation CNS hypomyelination Status epilepticus Neurodegeneration Pneumonia Visual impairment Microretrognathia Pyloric stenosis Multiple joint contractures Proptosis Plagiocephaly Narrow palate Clonus Talipes Abnormality of the cerebral white matter Muscular hypotonia of the trunk High forehead Cerebral cortical atrophy Prematurely aged appearance Skeletal muscle atrophy Flexion contracture Spasticity Bronchomalacia Periorbital edema Premature skin wrinkling Tracheomalacia Shoulder muscle hypoplasia Cervical segmentation defect Finger syndactyly Bilateral cleft lip Median cleft lip and palate Anterior pituitary hypoplasia Panhypopituitarism Large forehead Abnormal cortical gyration Bilateral cleft lip and palate Skin tags Median cleft lip Single median maxillary incisor Partial agenesis of the corpus callosum Neurodevelopmental delay Anophthalmia Heart murmur Optic nerve hypoplasia Holoprosencephaly Preauricular skin tag Wide cranial sutures Semilobar holoprosencephaly Postaxial hand polydactyly Asymmetric ventricles Prominent nasal bridge Coloboma Camptodactyly Clinodactyly Short neck Downslanted palpebral fissures Diastolic heart murmur Agenesis of incisor Prominent antihelix Anterior pituitary agenesis Short hard palate Single naris Underdeveloped tragus Hypoplasia of the premaxilla Thoracic hemivertebrae Alobar holoprosencephaly Coarctation of aorta Growth hormone deficiency Neck muscle hypoplasia Developmental regression Intellectual disability, profound Apraxia Epileptic encephalopathy Generalized myoclonic seizures Sleep disturbance Inability to walk Short palm Deeply set eye Postnatal microcephaly EEG abnormality Kyphoscoliosis Prominent forehead Myoclonus Encephalopathy Intellectual disability, severe Cognitive impairment Thick lower lip vermilion Stereotypy Dental malocclusion Thoracolumbar kyphoscoliosis Oral cleft Cleft lip Micropenis Polydactyly Agenesis of corpus callosum Microphthalmia EEG with generalized slow activity Multifocal seizures Loss of consciousness Infantile encephalopathy Mood swings Developmental stagnation Bruxism Hyperventilation Poor eye contact Infantile spasms Abnormality of thumb phalanx


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