Brachydactyly, and Renal agenesis

Diseases related with Brachydactyly and Renal agenesis

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


Top matches:

Medium match MÜLLERIAN APLASIA AND HYPERANDROGENISM


Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence or underdevelopment of the uterus, and sometimes absence or underdevelopment of the vagina.

MÜLLERIAN APLASIA AND HYPERANDROGENISM Is also known as wnt4 deficiency|mÜllerian duct failure and hyperandrogenism|mullerian duct failure and hyperandrogenism

Related symptoms:

  • Short stature
  • Cleft palate
  • High palate
  • Brachydactyly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MÜLLERIAN APLASIA AND HYPERANDROGENISM

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE


Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by de Winter et al., 2000).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE Is also known as face

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE

Medium match DUPLICATION/INVERSION 15Q11


The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

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Other less relevant matches:

Medium match DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS


The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

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 OROFACIODIGITAL SYNDROME TYPE 4


Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

OROFACIODIGITAL SYNDROME TYPE 4 Is also known as oral-facial-digital syndrome, type iv|ofd syndrome with tibial defects|ofd syndrome, baraitser-burn type|mohr-majewski syndrome|ofds iv|oral-facial-digital syndrome type 4|ofd4|baraitser-burn syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 4

Medium match ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX


ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

Medium match OROFACIODIGITAL SYNDROME TYPE 6


Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

Medium match PALLISTER-HALL SYNDROME; PHS


Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996).

PALLISTER-HALL SYNDROME; PHS Is also known as hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about PALLISTER-HALL SYNDROME; PHS

Medium match ROBERTS SYNDROME; RBS


Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010).

ROBERTS SYNDROME; RBS Is also known as long bone deficiencies associated with cleft lip-palate

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about ROBERTS SYNDROME; RBS

Top 5 symptoms//phenotypes associated to Brachydactyly and Renal agenesis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Renal agenesis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism

Common Symptoms - More than 50% cases


Epicanthus

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Posteriorly rotated ears Feeding difficulties Generalized hypotonia Abnormal heart morphology Ventricular septal defect Talipes equinovarus Cleft palate Micrognathia Clinodactyly Hearing impairment Short philtrum Microphthalmia Syndactyly Downslanted palpebral fissures Abnormality of the kidney Cataract Short nose Renal cyst Toe syndactyly Renal dysplasia Depressed nasal bridge Cerebral atrophy Absent speech Intellectual disability, severe Hydronephrosis Anteverted nares Patent ductus arteriosus Polydactyly Frontal bossing Agenesis of corpus callosum Wide nasal bridge Sensorineural hearing impairment Cleft lip Postaxial polydactyly Abnormality of cardiovascular system morphology Unilateral renal agenesis Strabismus Hamartoma Brachycephaly Abnormality of the genital system Hypospadias Radial deviation of finger Cleft upper lip Micropenis

Rare Symptoms - Less than 30% cases


Prominent nasal bridge Telecanthus Triangular mouth Mesomelia Intellectual disability, moderate Coloboma Corneal opacity Hip dislocation Long face Highly arched eyebrow Esotropia Hydroureter Polycystic kidney dysplasia Thick lower lip vermilion Spasticity Dandy-Walker malformation Bilateral sensorineural hearing impairment Small nail Anonychia Nystagmus Oligodactyly Ptosis Bilateral cryptorchidism Y-shaped metacarpals Macrocephaly Mesoaxial hand polydactyly Atrial septal defect Hypothalamic hamartoma Dilatation Mesoaxial polydactyly Convex nasal ridge Intrauterine growth retardation Aplasia/Hypoplasia of the corpus callosum Talipes Hand polydactyly Renal hypoplasia/aplasia Encephalocele Choanal atresia Ambiguous genitalia Oligohydramnios Postaxial hand polydactyly Foot polydactyly Decreased testicular size Bifid uvula Accessory oral frenulum Prominent nose Oral cleft Anal atresia Abnormal oral frenulum morphology Genu varum Retrognathia Failure to thrive Preaxial hand polydactyly Hemivertebrae Recurrent urinary tract infections Microtia Proptosis Skeletal dysplasia Lobulated tongue Conductive hearing impairment Postnatal growth retardation Malar flattening Flexion contracture Tongue nodules Hamartoma of tongue Nail dysplasia Limb undergrowth Everted lower lip vermilion Broad nasal tip Myopia Long philtrum Neoplasm Cafe-au-lait spot Anemia Thrombocytopenia Recurrent respiratory infections Synophrys Coarse facial features Abnormality of the nervous system Horseshoe kidney Ectopic kidney Muscular hypotonia Drooling Absent radius Low-set, posteriorly rotated ears Hernia Clinodactyly of the 5th finger Optic atrophy Short neck Precocious puberty Respiratory tract infection Molar tooth sign on MRI Abnormality of neuronal migration Hirsutism Tibial bowing Trigonocephaly Preaxial polydactyly Amenorrhea Tachypnea Oculomotor apraxia Abnormal retinal morphology Thick eyebrow Partial agenesis of the corpus callosum Occipital meningocele Single transverse palmar crease Dyspnea Respiratory failure Behavioral abnormality Central Y-shaped metacarpal Midline notch of upper alveolar ridge Obesity Protruding ear Biparietal narrowing Hypoplasia of olfactory tract Bulimia Episodic tachypnea Cerebellar vermis hypoplasia Preaxial foot polydactyly Short femur Meningocele Finger clinodactyly Inguinal hernia Apraxia High anterior hairline Chronic constipation Facial hypotonia Male pseudohermaphroditism Shawl scrotum Protruding tongue Microcytic anemia Hypoplasia of the uterus Spastic diplegia Tented upper lip vermilion Decreased serum testosterone level Infantile muscular hypotonia Abnormality of the ovary Coxa valga Aspiration Aganglionic megacolon Shield chest Aplasia of the uterus Dental malocclusion Volvulus Hypochromic microcytic anemia Abnormal cerebellum morphology Ataxia Primary amenorrhea Cubitus valgus Feeding difficulties in infancy Apnea Renal hypoplasia Gait disturbance Tremor Fever Hypoganglionosis Perimembranous ventricular septal defect Hemoglobin H Endometriosis Reduced alpha/beta synthesis ratio Widely-spaced maxillary central incisors Acne Absent frontal sinuses U-Shaped upper lip vermilion Abnormal hemoglobin Ileus Growth hormone deficiency External genital hypoplasia Microretrognathia Fibular hypoplasia Bilateral cleft lip and palate Low hanging columella Bilateral cleft lip Upper limb undergrowth Shallow orbits Severe intrauterine growth retardation Ankle contracture Cystic hygroma Bicornuate uterus Short femoral neck Bilateral talipes equinovarus Clitoral hypertrophy Eosinophilia Melanoma Abnormality of the metacarpal bones Cranial nerve paralysis Opacification of the corneal stroma Eyelid coloboma Subvalvular aortic stenosis Elbow flexion contracture Aplasia of the ulna Midface capillary hemangioma Enlarged labia minora Tetraphocomelia Bilateral radial aplasia Intermittent thrombocytopenia Frontal encephalocele Absent earlobe Talipes equinovalgus Bilateral renal agenesis Long penis Accessory spleen Craniofacial dysostosis Narrow naris Wrist flexion contracture Hydranencephaly Phocomelia Hand oligodactyly Biliary tract abnormality Knee flexion contracture Blue sclerae Holoprosencephaly Adrenal hypoplasia Vaginal atresia Rib fusion Panhypopituitarism Decreased circulating cortisol level Upper airway obstruction Short 4th metacarpal Microglossia Postaxial foot polydactyly Bilateral choanal atresia Abnormal lung lobation Hypopituitarism Natal tooth Tapered finger Adrenal insufficiency Atresia of the external auditory canal Scrotal hypoplasia Cutaneous syndactyly Microphallus Mandibular aplasia Underdeveloped nasal alae Midline facial capillary hemangioma Sparse hair Craniosynostosis Paralysis Polyhydramnios Glaucoma Hydrocephalus Diverticulosis of trachea Mesoaxial foot polydactyly Distal shortening of limbs Hypoplasia of the epiglottis Preductal coarctation of the aorta Primitive neuroectodermal tumor Bifid epiglottis Distal urethral duplication Thyroid dysgenesis Laryngeal cleft Radial head subluxation Hydrometrocolpos Macroglossia Constipation Thick vermilion border Dental crowding Chorioretinal coloboma Aortic aneurysm Relative macrocephaly Abnormal palate morphology Aortic regurgitation Short chin Short toe 2-3 toe syndactyly Congenital nystagmus Intellectual disability, profound Progressive visual loss Neurodevelopmental delay Gonadal dysgenesis Microcornea Echolalia Iris coloboma Bowing of the legs Neurogenic bladder Joint hyperflexibility Tetralogy of Fallot Deeply set eye Aggressive behavior Cerebral cortical atrophy Autistic behavior Severe short stature Joint hypermobility Pectus excavatum Stereotypy Hypoplasia of teeth Posterior staphyloma Short 2nd toe Scleral staphyloma Lop ear Lens luxation Short upper lip Colpocephaly Profound global developmental delay Abnormality of brain morphology Facial asymmetry Hypogonadism Abnormality of the fingernails Prominent nasal tip Cystic renal dysplasia Hypoplasia of the iris Severe sensorineural hearing impairment Infantile spasms Triphalangeal thumb Abnormal dermatoglyphics Short phalanx of finger Neonatal hypotonia Wide mouth Hypsarrhythmia High myopia Nail dystrophy Bulbous nose Abnormality of the skin Short distal phalanx of finger Downturned corners of mouth Profound sensorineural hearing impairment High forehead Dolichocephaly Autism Severe expressive language delay Self-biting Severe receptive language delay Mental deterioration Delayed speech and language development Peripheral neuropathy Pes planus Gait ataxia Visual impairment Respiratory distress Intellectual disability, mild Congestive heart failure Blindness Hypoplasia of the corpus callosum Ventriculomegaly Abnormality of the skeletal system Hyporeflexia Hyperactivity Camptodactyly of finger Flat face Perineal fistula Microtia, third degree Oral synechia Aplasia/Hypoplasia of the mandible Bilateral lung agenesis Rectal atresia Absent testis Cerebral cortical hemiatrophy Aplasia/Hypoplasia of the tibia Absent crus of helix Delayed skeletal maturation Abnormality of the gingiva Small for gestational age Abnormal oral mucosa morphology Subcortical cerebral atrophy Porencephalic cyst Abnormality of the tongue Monorchism Pain Short tibia Abdominal pain Abnormal vagina morphology Frontal balding Irritability Umbilical hernia Kyphoscoliosis Gastroesophageal reflux Increased serum testosterone level Pneumonia Aplasia/Hypoplasia of the fallopian tube Polyneuropathy Facial hirsutism Abnormality of metabolism/homeostasis Midface retrusion Aplasia of the vagina Hypertonia Vomiting Dysphagia Rectovaginal fistula Median cleft lip Finger syndactyly High, narrow palate Depressed nasal ridge Interphalangeal joint contracture of finger Bone marrow hypocellularity Absent thumb Specific learning disability Reticulocytopenia Duplicated collecting system Complete duplication of thumb phalanx Split hand Wide nose Pulmonary hypoplasia Chromosomal breakage induced by crosslinking agents Micromelia Prolonged G2 phase of cell cycle Anemic pallor Abnormality of eye movement Deficient excision of UV-induced pyrimidine dimers in DNA Hypergonadotropic hypogonadism Bowing of the long bones Leukemia Bruising susceptibility Primary adrenal insufficiency Submucous cleft hard palate Occipital encephalocele Abnormality of skin pigmentation Abnormal joint morphology Short finger Abnormality of the ear Hypoplastic toenails Short thumb Neutropenia Hypotelorism Laryngomalacia Pancytopenia Abnormality of the outer ear Joint dislocation Short ribs Hepatic fibrosis Premature separation of centromeric heterochromatin



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Wide nasal bridge and Autistic behavior, related diseases and genetic alterations Tremor and Interphalangeal joint contracture of finger, related diseases and genetic alterations Low-set ears and Short palpebral fissure, related diseases and genetic alterations Obesity and Systemic lupus erythematosus, related diseases and genetic alterations Muscle weakness and Autism, related diseases and genetic alterations Cleft palate and Abnormality of the liver, related diseases and genetic alterations

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