Brachydactyly, and Intellectual disability, profound

Diseases related with Brachydactyly and Intellectual disability, profound

In the following list you will find some of the most common rare diseases related to Brachydactyly and Intellectual disability, profound that can help you solving undiagnosed cases.


Top matches:

Medium match THANATOPHORIC DYSPLASIA TYPE 1


Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

THANATOPHORIC DYSPLASIA TYPE 1 Is also known as thanatophoric dwarfism type 1|td1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 1

Medium match THANATOPHORIC DYSPLASIA, TYPE I; TD1


Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987).

THANATOPHORIC DYSPLASIA, TYPE I; TD1 Is also known as thanatophoric dysplasia|lethal short-limbed platyspondylic dwarfism, san diego type|thanatophoric dwarfism|td|platyspondylic lethal skeletal dysplasia, san diego type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about THANATOPHORIC DYSPLASIA, TYPE I; TD1

Medium match 2Q32Q33 MICRODELETION SYNDROME


2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Mendelian

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

Learn more

Other less relevant matches:

Medium match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Medium match ACROMESOMELIC DYSPLASIA, GREBE TYPE


Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, GREBE TYPE Is also known as fumaric aciduria|chondrodysplasia, grebe type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, GREBE TYPE

Medium match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Medium match C SYNDROME


C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

C SYNDROME Is also known as opitz c trigonocephaly|trigonocephaly syndrome|trigonocephaly c syndrome|otcs|opitz trigonocephaly syndrome|opitz trigonocephaly c syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about C SYNDROME

Medium match SMITH-LEMLI-OPITZ SYNDROME


Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Medium match BARDET-BIEDL SYNDROME 4; BBS4


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

Low match SICK SINUS SYNDROME 2; SSS2


SICK SINUS SYNDROME 2; SSS2 Is also known as atrial fibrillation with bradyarrhythmia|sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation|sinus node disease, familial, autosomal dominant|sinus bradycardia syndrome, familial, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Brachydactyly
  • Fatigue
  • Congestive heart failure
  • Abnormality of cardiovascular system morphology


SOURCES: OMIM MESH MENDELIAN

More info about SICK SINUS SYNDROME 2; SSS2

Top 5 symptoms//phenotypes associated to Brachydactyly and Intellectual disability, profound

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Brachydactyly and Intellectual disability, profound. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Patent ductus arteriosus

Common Symptoms - More than 50% cases


Polyhydramnios

Uncommon Symptoms - Between 30% and 50% cases


Micromelia Hearing impairment Hypertelorism High palate Intellectual disability, severe Frontal bossing Ventriculomegaly Anteverted nares Congestive heart failure Growth delay Long philtrum Short stature Microcephaly Atrial septal defect Talipes equinovarus Strabismus Micrognathia Ventricular septal defect Proptosis Downslanted palpebral fissures Wide nasal bridge Skeletal dysplasia Posteriorly rotated ears Polydactyly Low-set ears Agenesis of corpus callosum Clinodactyly of the 5th finger Short toe Abnormal heart morphology Cleft palate Flexion contracture Aplasia/Hypoplasia of the corpus callosum Failure to thrive Postaxial hand polydactyly Autism Ptosis Scoliosis Hypertension Spasticity Cataract Optic atrophy Bowing of the long bones Redundant skin Dental crowding Relative macrocephaly Wide mouth Syndactyly Split hand Cryptorchidism Increased nuchal translucency Gingival overgrowth Abnormality of the skeletal system Joint stiffness Abnormality of the kidney Kyphosis Sensorineural hearing impairment Hip dislocation Limb undergrowth Hydrocephalus Respiratory insufficiency Abnormality of cardiovascular system morphology

Rare Symptoms - Less than 30% cases


Thick eyebrow Sleep disturbance Coarse facial features Abnormality of dental morphology Prominent nose Convex nasal ridge Overlapping toe Abnormality of digit Self-mutilation Short neck Median cleft palate Dilatation Microphthalmia Nystagmus Hypoplasia of the corpus callosum Visual impairment Myopia Hydronephrosis Unilateral renal agenesis Intellectual disability, moderate Biparietal narrowing Epicanthus Short nose Clinodactyly Constipation Upslanted palpebral fissure Low-set, posteriorly rotated ears Toe syndactyly Postaxial polydactyly Congenital diaphragmatic hernia Abnormality of the genital system Multicystic kidney dysplasia Renal hypoplasia/aplasia Clitoral hypertrophy Hirsutism Iris coloboma Ulnar deviation of finger Postaxial foot polydactyly Broad alveolar ridges Hepatomegaly Optic nerve hypoplasia Hyperbilirubinemia Renal cyst Colpocephaly Thin vermilion border Aortic regurgitation Short chin Thick lower lip vermilion Bilateral sensorineural hearing impairment Renal agenesis Bulbous nose Intrauterine growth retardation Long face Broad forehead Facial asymmetry Severe short stature Disproportionate short-limb short stature Aggressive behavior Cloverleaf skull Excessive wrinkled skin Short sacroiliac notch Absent speech Lethal short-limbed short stature Behavioral abnormality Decreased fetal movement Feeding difficulties Attention deficit hyperactivity disorder Polymicrogyria Short femur Hypoplastic ilia Aplasia/Hypoplasia of the lungs Heterotopia Smooth philtrum Platyspondyly Narrow chest Flat face Talipes Abnormality of the metaphysis Joint hyperflexibility Abnormality of the dentition Hyperactivity Hernia Wide anterior fontanel Femoral bowing Acanthosis nigricans Hypoplasia of the ear cartilage Midline facial capillary hemangioma Recurrent infections Thick anterior alveolar ridges Hypertonia Fused sternal ossification centers Diarrhea Vomiting Edema Right-to-left shunt Fever Palpitations Hypoglycemia Hypospadias Mitral valve prolapse Dandy-Walker malformation Wide intermamillary distance Webbed neck Intestinal malrotation Premature birth Syncope Hypopigmentation of the skin Pulmonary hypoplasia Finger syndactyly Cerebellar hypoplasia Autistic behavior Feeding difficulties in infancy Ventricular hypertrophy Conotruncal defect Retrognathia Gastroesophageal reflux Atrial fibrillation Micropenis Glaucoma Renal cortical cysts Aplasia/Hypoplasia of the abdominal wall musculature Pseudohypoaldosteronism Omphalocele Failure to thrive in infancy Left ventricular noncompaction Sacral dimple Cutis laxa Joint dislocation Horseshoe kidney Bilateral single transverse palmar creases Tetralogy of Fallot Trigonocephaly Short metacarpal Limitation of joint mobility Oral cleft Craniosynostosis Cleft lip Neonatal hypotonia Delayed skeletal maturation Pectus excavatum Hand polydactyly Sinus bradycardia Female pseudohermaphroditism Medulloblastoma Left ventricular hypertrophy Bradycardia Cardiac arrest Metopic synostosis Abnormality of the anus Accessory oral frenulum Atrioventricular block Narrow forehead Radial deviation of finger Abnormality of the helix Abnormal hair pattern Ventricular fibrillation Ventricular extrasystoles Anal stenosis Abnormality of immune system physiology Dislocated radial head Multiple joint contractures Peripheral demyelination Renal hypoplasia Eczema Hypopigmentation of hair Microglossia Hypoplasia of the frontal lobes Male pseudohermaphroditism Upper limb undergrowth Abnormal eyelash morphology Abnormality of the gallbladder Severe intrauterine growth retardation Abnormal lung lobation Epiphyseal stippling Increased number of teeth Sclerocornea Atrioventricular canal defect Mesomelia Hyperkalemia Adrenal insufficiency Septate vagina 2-3 toe syndactyly Metatarsus adductus Cutis marmorata Aplasia/Hypoplasia of the cerebellum Severe failure to thrive Periventricular gray matter heterotopia Hammertoe Aplasia/Hypoplasia affecting the eye Mesomelic short stature Gastroschisis Ectopic calcification Ureteropelvic junction obstruction Advanced eruption of teeth Decreased circulating aldosterone level Hypocholesterolemia Increased serum testosterone level Abnormal localization of kidney Abnormal renal morphology Tracheal stenosis Gastrointestinal dysmotility Abnormality of the larynx Cholestatic liver disease Bicornuate uterus Breech presentation Bifid tongue Overlapping fingers Sex reversal Excessive daytime somnolence Talipes calcaneovalgus Bifid scrotum Sleep-wake cycle disturbance Sudden cardiac death Aganglionic megacolon Retinal dystrophy Anosmia Holoprosencephaly External genital hypoplasia Abnormality of dental enamel Short thumb Rhizomelia Fatigue Amblyopia Abnormal form of the vertebral bodies Hypercholesterolemia Choanal atresia Recurrent otitis media Vertigo Cutaneous photosensitivity Hip subluxation Abnormality of the ribs Coarctation of aorta Hypoplasia of penis Oligohydramnios Ambiguous genitalia Retinal degeneration Abnormal dermatoglyphics Alveolar ridge overgrowth Rod-cone dystrophy Severe photosensitivity Opsoclonus Facial capillary hemangioma Abnormality of limbs Elevated 7-dehydrocholesterol Cognitive impairment Proximal placement of thumb Blindness Obesity Self-injurious behavior Scrotal hypoplasia Hypogonadism Hyponatremia Precocious puberty Pyloric stenosis Poor suck Abnormality of the urinary system Reduced visual acuity Reduced number of teeth Nyctalopia Abnormality of the metacarpal bones Aplasia/Hypoplasia of the radius Short tibia Motor delay Tented upper lip vermilion Broad hallux phalanx Short columella Narrow nose Abnormality of the periventricular white matter Restlessness Long nose Myopathic facies Bilateral talipes equinovarus Dermal atrophy Oligodontia Cleft soft palate Drooling Microretrognathia Long eyelashes Broad thumb Broad-based gait Thin skin Hemiparesis Short palpebral fissure Fine hair Conical tooth Generalized osteoporosis Febrile seizures Gait ataxia Esotropia Microcornea Highly arched eyebrow Dolichocephaly Corneal opacity Coloboma Mental deterioration Telecanthus Pes planus Intellectual disability, mild Excessive salivation Narrow jaw Conspicuously happy disposition Narrow maxilla Incomprehensible speech Dacryocystitis Large beaked nose Toe clinodactyly Happy demeanor Pes valgus Overbite Decreased testicular size Nail dysplasia Abnormal palate morphology Small face Hyperreflexia Delayed speech and language development Wide-cupped costochondral junctions Small abnormally formed scapulae Small foramen magnum Severe platyspondyly Severe short-limb dwarfism Craniofacial dysostosis Lethal skeletal dysplasia Megalencephaly Midface retrusion Flared metaphysis Abnormality of neuronal migration Metaphyseal irregularity Radioulnar synostosis Short long bone Short ribs Epidermal acanthosis Respiratory distress Abnormality of the sacroiliac joint Malar flattening Inguinal hernia Dental malocclusion Short philtrum Ectodermal dysplasia Downturned corners of mouth Wide nose Short palm Arachnodactyly Poor speech Abnormality of the foot Abnormality of the cerebral white matter Prominent nasal bridge Sparse hair Osteoporosis Postnatal growth retardation Camptodactyly Joint laxity Anxiety Thin upper lip vermilion Osteopenia High forehead Narrow mouth Brachycephaly Hyperhidrosis Progressive visual loss Genu varum Mesiodens Short distal phalanx of finger Generalized hirsutism Thickened skin Nephrolithiasis Hypertrichosis Small nail Overgrowth Macroglossia Delayed eruption of teeth Thick vermilion border Joint hypermobility Intellectual disability, progressive Synophrys Congenital cataract Protruding ear Hepatosplenomegaly Umbilical hernia Macrotia Dyspnea Mandibular prognathia Splenomegaly Hemivertebrae Accelerated skeletal maturation Open operculum Long penis Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Generalized hypertrichosis Biliary atresia Cavernous hemangioma Hyperextensibility of the finger joints Gingival fibromatosis Thin bony cortex Spina bifida occulta Dystrophic fingernails Broad ribs Protruding tongue Aortic root aneurysm Pericardial effusion Anonychia Large for gestational age Metaphyseal widening Growth abnormality Hemangioma Cardiomyopathy Aplasia of the middle phalanges of the toes Aortic aneurysm Posterior staphyloma Short foot Hepatic failure Lactic acidosis Neurological speech impairment Pallor Acidosis Encephalopathy Cerebral atrophy Neoplasm Short 2nd toe Abdominal distention Scleral staphyloma Lop ear Lens luxation Short upper lip Profound global developmental delay Hypoplasia of teeth Neurogenic bladder Congenital nystagmus Bowing of the legs Chorioretinal coloboma Metabolic acidosis Aciduria Cutaneous leiomyoma Polycythemia Mitochondrial encephalopathy Choroid plexus cyst Aplasia/Hypoplasia involving the metacarpal bones Infantile encephalopathy Psychomotor deterioration Enterocolitis Organic aciduria Synostosis of carpal bones Fibular hypoplasia Aplasia/Hypoplasia of the thumb Generalized-onset seizure Tarsal synostosis Reduced subcutaneous adipose tissue Abnormality of the coagulation cascade Hypoplasia of the brainstem Sarcoma Hyperammonemia Lissencephaly Aminoaciduria Cholestasis Status epilepticus Sick sinus syndrome



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Craniosynostosis, 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