Cognitive impairment, and Brachycephaly

Diseases related with Cognitive impairment and Brachycephaly

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Brachycephaly that can help you solving undiagnosed cases.


Top matches:

Medium match CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME


Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).

CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME Is also known as luteinizing hormone-releasing hormone deficiency with ataxia|gordon-holmes syndrome

Related symptoms:

  • Short stature
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME

Medium match BARDET-BIEDL SYNDROME 8; BBS8


BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay (Ansley et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Cognitive impairment
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 8; BBS8

Medium match PSEUDOPSEUDOHYPOPARATHYROIDISM


Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).

PSEUDOPSEUDOHYPOPARATHYROIDISM Is also known as aho-pphp syndrome|albright hereditary osteodystrophy without multiple hormone resistance|albright hereditary osteodystrophy-pphp syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOPSEUDOHYPOPARATHYROIDISM

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Other less relevant matches:

Medium match NATIVE AMERICAN MYOPATHY


Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE


Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE Is also known as nans deficiency|semd, genevieve type|semdg|semd, geneviÈve type

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE

Low match CORNELIA DE LANGE SYNDROME 3; CDLS3


Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 3; CDLS3

Low match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Low match ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2


The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS, including midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2 Is also known as multisynostotic osteodysgenesis with long bone fractures|osteodysgenesis, multisynostotic, with fractures|trapezoidocephaly-synostosis syndrome

Related symptoms:

  • Intellectual disability
  • Flexion contracture
  • Depressed nasal bridge
  • Frontal bossing
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2

Low match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Low match BETA-MANNOSIDOSIS


Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.

BETA-MANNOSIDOSIS Is also known as beta-mannosidase deficiency|beta-mannosidosis|lysosomal beta-mannosidase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BETA-MANNOSIDOSIS

Top 5 symptoms//phenotypes associated to Cognitive impairment and Brachycephaly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Brachycephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Abnormal facial shape Muscular hypotonia Abnormality of the skeletal system Ventriculomegaly Short neck Depressed nasal bridge Brachydactyly Ptosis Bulbous nose Osteoporosis Micrognathia Synophrys Abnormality of the pinna High palate Seizures Microcephaly Cleft palate Midface retrusion Hydrocephalus Flexion contracture Ataxia Neurological speech impairment

Rare Symptoms - Less than 30% cases


Proptosis Malar flattening Recurrent respiratory infections Downturned corners of mouth Kyphoscoliosis Pectus excavatum Long philtrum Cerebral atrophy Kyphosis Apnea Craniosynostosis Narrow chest Skeletal muscle atrophy Hepatosplenomegaly Epicanthus Frontal bossing Skeletal dysplasia Prominent forehead Abnormality of the skin Anteverted nares Myopia Prominent nasal bridge Low anterior hairline Smooth philtrum Thick lower lip vermilion Dysarthria Abnormality of the dentition Camptodactyly Arachnodactyly Unsteady gait Hirsutism Recurrent fractures Postural instability Slender finger Narrow iliac wings Delayed speech and language development Impulsivity Scoliosis Delayed eruption of teeth Short foot Aggressive behavior Pain Behavioral abnormality Clinodactyly of the 5th finger Hypogonadism Obesity Low-set ears Growth delay Muscle weakness Cryptorchidism High forehead Ulnar bowing Narrow pelvis bone Pear-shaped nose Bicoronal synostosis Fused labia minora Anemia Hepatomegaly Increased bone mineral density Macrocephaly Splenomegaly Hyperlordosis Optic atrophy Abnormality of epiphysis morphology Short toe Carious teeth Bone pain Humeroradial synostosis Hypodontia Abnormal vertebral morphology Hypoplasia of the maxilla Prominent nose Growth hormone deficiency Blue sclerae Small nail Abnormality of the face Short distal phalanx of finger Feeding difficulties Lambdoidal craniosynostosis Choanal atresia Small earlobe Long hallux Narrow palm Focal motor seizures Long palm Asymmetry of the ears Hypogonadotrophic hypogonadism Atrial septal defect Gynecomastia Abnormality of retinal pigmentation Respiratory failure Dementia Respiratory tract infection Progressive neurologic deterioration Wide anterior fontanel Abnormal renal morphology Abnormality of the genitourinary system Radioulnar synostosis Rocker bottom foot Multiple joint contractures Malnutrition Femoral bowing Esophageal atresia Coronal craniosynostosis Stenosis of the external auditory canal Choanal stenosis Hypoplastic labia majora Wormian bones Upper airway obstruction Vaginal atresia Abnormality of the nail Increased susceptibility to fractures Narrow palate Stridor Abnormality of metabolism/homeostasis Babinski sign Hyperactivity Cerebral cortical atrophy Attention deficit hyperactivity disorder Generalized tonic-clonic seizures Lower limb muscle weakness Epileptic encephalopathy Spastic tetraplegia Intention tremor Narrow palpebral fissure Spastic tetraparesis Laryngomalacia Neurodevelopmental delay Dilatation Pendular nystagmus Proximal amyotrophy Communicating hydrocephalus Tics Demyelinating peripheral neuropathy Subcortical cerebral atrophy Thenar muscle atrophy Angiokeratoma Urinary glycosaminoglycan excretion Angiokeratoma corporis diffusum Phonic tics Tortuosity of conjunctival vessels Aspartylglucosaminuria Hypoplasia of the abdominal wall musculature Recurrent infections Dysphagia Abnormality of the fingernails Osteolytic defects of the phalanges of the hand Osteolysis Sleep apnea Abnormality of pelvic girdle bone morphology Slender build Back pain Abnormality of the thorax Abnormality of dental morphology Osteomyelitis Prominent occiput Agenesis of permanent teeth Abnormality of the vertebral column Abnormality of the clavicle Osteopetrosis Spondylolisthesis Tremor Ridged nail Small face Low back pain Abnormal pattern of respiration Persistence of primary teeth Delayed eruption of permanent teeth Delayed eruption of primary teeth Absent frontal sinuses Snoring Spondylolysis Osteolytic defects of the distal phalanges of the hand Persistent open anterior fontanelle Abnormal pelvis bone ossification Peripheral neuropathy Hyperextensibility of the finger joints Sparse eyebrow Epileptic spasms Cataract Hypoplasia of dental enamel Intellectual disability, severe Cerebral calcification Short metacarpal Round face Coarse facial features Joint laxity Full cheeks Platyspondyly Confusion Flat face Wide nose Thick vermilion border Low posterior hairline Short metatarsal Hydrometrocolpos Infantile muscular hypotonia Metaphyseal irregularity Spondyloepiphyseal dysplasia Flared metaphysis Short femoral neck Irregular vertebral endplates Flat acetabular roof Spondyloepimetaphyseal dysplasia Small epiphyses Irregular epiphyses Carpal bone hypoplasia Situs inversus totalis Hypoplasia of the corpus callosum Strabismus Metaphyseal striations Arthrogryposis multiplex congenita Fever Downslanted palpebral fissures Respiratory insufficiency Myopathy Ectopic calcification Areflexia Hyporeflexia Pseudohypoparathyroidism Conductive hearing impairment Proximal muscle weakness Telecanthus Facial palsy Blepharophimosis Abnormality of the foot Multiple skeletal anomalies Talipes Long face Short 4th metacarpal Generalized muscle weakness Narrow forehead Short palpebral fissure Open mouth Tented upper lip vermilion Congenital contracture Gowers sign Myopathic facies Ankle contracture Malignant hyperthermia Restrictive deficit on pulmonary function testing Long fibula Posterior scalloping of vertebral bodies Abnormal electroretinogram Bifid uvula Difficulty walking Intellectual disability, moderate Abnormality of the hypothalamus-pituitary axis Pectus carinatum Short philtrum Facial asymmetry Abnormality of movement Decreased fertility Supernumerary nipple High, narrow palate Hemiplegia/hemiparesis Personality changes Generalized myoclonic seizures Webbed neck Narrow mouth Wide intermamillary distance High myopia Intellectual disability, profound Broad-based gait Tall stature Dental crowding Hyperpigmentation of the skin Narrow face Spontaneous abortion Nasal speech Motor delay Decreased muscle mass Disproportionate tall stature Long fingers Mandibular prognathia Myoclonus Small basal ganglia Rod-cone dystrophy Renal dysplasia Asthma Postaxial polydactyly Micropenis Clinodactyly Gastroesophageal reflux Thin upper lip vermilion Feeding difficulties in infancy Postnatal growth retardation Abnormal cardiac septum morphology Polydactyly Pulmonic stenosis Poor speech Thin vermilion border Absent speech Thick eyebrow Small hand Highly arched eyebrow Hypertrichosis Long eyelashes Finger clinodactyly Proximal placement of thumb Cutis marmorata Thick hair Limited elbow movement Hypertelorism Hypospadias Gait disturbance Talipes equinovarus Increased urinary disaccharide excretion



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