Depressed nasal bridge, and Apnea

Diseases related with Depressed nasal bridge and Apnea

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

Top matches:

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. 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 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome is a rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.

AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME Is also known as mrd25|xia-gibbs syndrome|mental retardation, autosomal dominant 25

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME

Other less relevant matches:

OROFACIODIGITAL SYNDROME XVI; OFD16 Is also known as oral-facial-digital syndrome, type xvi|ofds xvi

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVI; OFD16

Congenital glutamine deficiency is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities (summary by Haberle et al., 2011).

CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY Is also known as glutamine synthase deficiency, congenital systemic|inherited gs deficiency|inherited glutamine synthetase deficiency

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY

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).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

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

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

High match SCHEIE SYNDROME

Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

SCHEIE SYNDROME Is also known as mps v, formerly|mucopolysaccharidosis type 1s|mps5, formerly|mps1-s|mps1s|mucopolysaccharidosis type v, formerly|mpsis|mucopolysaccharidosis type is

Related symptoms:

  • Sensorineural hearing impairment
  • Visual impairment
  • Depressed nasal bridge
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHEIE SYNDROME

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Anteverted nares Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypoplasia of the corpus callosum Intellectual disability Sleep apnea High palate Long philtrum Hepatomegaly Ataxia Micrognathia Full cheeks Upslanted palpebral fissure Delayed myelination Wide nasal bridge Microcephaly Ventriculomegaly

Rare Symptoms - Less than 30% cases

Flexion contracture Camptodactyly Oculomotor apraxia Scoliosis Brain atrophy Bradycardia Elbow flexion contracture Protruding ear Hyperreflexia Thin upper lip vermilion Inability to walk Muscle weakness Intellectual disability, severe Esotropia Micromelia Laryngomalacia Obstructive sleep apnea Muscular hypotonia Feeding difficulties Lumbar hyperlordosis Severe global developmental delay Skeletal dysplasia CNS hypomyelination Respiratory failure Failure to thrive Spasticity Round face Thick vermilion border Hydrocephalus Joint stiffness Absent speech Wide anterior fontanel Hypoplasia of the pons Thick upper lip vermilion Sex reversal Microphallus Olivopontocerebellar hypoplasia Hearing impairment Abnormality of the cerebral white matter Cryptorchidism Epicanthus Frontal bossing Ganglioneuroblastoma Pontocerebellar atrophy Congestive heart failure Kyphosis Inverted nipples Impulsivity Midface retrusion Nystagmus Hypertonia Nevus flammeus Hypogonadism Spastic paraplegia Irritability Muscular hypotonia of the trunk Severe short stature Macrotia Nevus Ambiguous genitalia Micropenis Progressive microcephaly Fasciculations Optic atrophy Myoclonus Cerebellar hypoplasia Hypergonadotropic hypogonadism Prominent supraorbital ridges Cerebral atrophy Clitoral hypertrophy Hypoplasia of the brainstem Flat occiput Dystonia Gliosis Chorea Mesomelia Gastroesophageal reflux Cerebral palsy Wide mouth Corneal opacity Genu valgum Retinal degeneration Wide nose Everted lower lip vermilion Syncope Limitation of joint mobility Aortic valve stenosis Situs inversus totalis Spastic paraparesis Aortic regurgitation Stridor Mandibular prognathia Rhinitis Spinal cord compression Dysostosis multiplex Mitral stenosis Broad face Spondylolisthesis Constrictive median neuropathy Abnormality of peripheral nerve conduction Mucopolysacchariduria Abnormal nerve conduction velocity Urinary glycosaminoglycan excretion Cervical cord compression Coarse facial features Glaucoma Craniosynostosis Femoral bowing Platyspondyly Otitis media Generalized-onset seizure High myopia Epidermal acanthosis Pulmonary arterial hypertension Rhizomelia Exotropia Acanthosis nigricans Redundant skin Thoracic hypoplasia Paraparesis Tibial bowing Pes cavus Abnormality of the clavicle Megalencephaly Central apnea Cloverleaf skull Metaphyseal chondrodysplasia Fibular bowing Aplasia/Hypoplasia of the mandible Enlarged cerebellum Sensorineural hearing impairment Visual impairment Abnormality of the skeletal system Short neck Splenomegaly Hyperbilirubinemia Abnormal autonomic nervous system physiology Postnatal microcephaly Uplifted earlobe Hypertelorism Strabismus Downslanted palpebral fissures Respiratory distress Behavioral abnormality Broad forehead Cortical gyral simplification Tracheomalacia Snoring Retrocerebellar cyst Ptosis Pulmonary artery stenosis Cognitive impairment Motor delay Ventricular septal defect Hernia Inguinal hernia Polydactyly Retrognathia Retinopathy Postaxial polydactyly Intestinal malrotation Subglottic stenosis Epiphyseal dysplasia Heterotopia Multiple renal cysts High forehead Elevated hepatic transaminase Polymicrogyria Renal cyst Triangular face Large fontanelles Decreased liver function Severe muscular hypotonia Lissencephaly Infantile muscular hypotonia Severe failure to thrive Hoarse voice Large face Short stature Abnormal facial shape Brachydactyly Pneumonia Dyspnea Bulbous nose Small hand Limb undergrowth Mitral regurgitation Thickened skin Short palpebral fissure Molar tooth sign on MRI Clumsiness Limited elbow extension Hyperlordosis Carious teeth Abnormality of the foot Sensorimotor neuropathy Poor suck Scaling skin Cubitus valgus Radial deviation of finger 2-3 toe syndactyly Opisthotonus Renal cell carcinoma Facial palsy Thoracolumbar scoliosis Trismus Excessive salivation Unexplained fevers Cold-induced sweating Hypothyroidism Hypoglycemia Attention deficit hyperactivity disorder Generalized tonic-clonic seizures Apraxia Open mouth Feeding difficulties in infancy Carcinoma Hamartoma Skin rash Teratoma Hamartoma of tongue Sacrococcygeal teratoma Respiratory insufficiency Diarrhea Short nose Encephalopathy Recurrent respiratory infections Respiratory tract infection Erythema Thin vermilion border Kyphoscoliosis Abnormal intestine morphology Hyperammonemia Lower limb hyperreflexia Periventricular cysts Subependymal cysts Necrolytic migratory erythema Pain Peripheral neuropathy Syndactyly Clinodactyly Hyperhidrosis Tricuspid atresia


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