Brachydactyly, and Renal dysplasia

Diseases related with Brachydactyly and Renal dysplasia

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


Top matches:

Medium match SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3 Is also known as srps2b|polydactyly with neonatal chondrodystrophy, type iii|verma-naumoff syndrome|asphyxiating thoracic dystrophy 3|short rib-polydactyly syndrome, type i|polydactyly with neonatal chondrodystrophy, type i|srps3|short rib-polydactyly syndrome, type iib|s

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Brachydactyly
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3

Medium match ACROCEPHALOPOLYDACTYLOUS DYSPLASIA


Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

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

Mendelian

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

Learn more

Other less relevant matches:

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 JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY


Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.

JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY Is also known as jbts with jatd|joubert syndrome with jatd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY

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 SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Medium match PALLISTER-HALL SYNDROME


Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.

PALLISTER-HALL SYNDROME Is also known as hypothalamic hamartoblastoma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PALLISTER-HALL SYNDROME

Low match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Low match CHARGE SYNDROME


CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

CHARGE SYNDROME Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|hhs|charge association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|hall

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARGE SYNDROME

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

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Postaxial polydactyly Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Anal atresia

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate

Common Symptoms - More than 50% cases


Micropenis

Uncommon Symptoms - Between 30% and 50% cases


Polydactyly

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Cleft lip Feeding difficulties Abnormal facial shape Posteriorly rotated ears Failure to thrive Growth delay Abnormality of the kidney Hypospadias Low-set, posteriorly rotated ears Cryptorchidism Short ribs Hemivertebrae Muscular hypotonia Low-set ears Short nose Abnormality of cardiovascular system morphology Depressed nasal bridge Choanal atresia Postaxial hand polydactyly Generalized hypotonia Renal agenesis Bifid uvula Limb undergrowth Respiratory insufficiency Visual loss Toe syndactyly Patent ductus arteriosus Microcephaly Oral cleft Cleft upper lip High palate Intrauterine growth retardation Ventricular septal defect Nystagmus Ptosis Abnormal heart morphology Accessory oral frenulum Hand polydactyly Hernia Ambiguous genitalia Rib fusion Small nail Talipes Holoprosencephaly Precocious puberty Renal cyst Talipes equinovarus Apnea Atrial septal defect Ataxia Decreased testicular size Growth hormone deficiency Hydronephrosis Microtia Scoliosis Microphthalmia Anteverted nares Hearing impairment Cone-shaped epiphysis Micromelia Syndactyly Severe short stature Frontal bossing Downslanted palpebral fissures Clinodactyly Agenesis of corpus callosum Conductive hearing impairment Hepatic fibrosis Feeding difficulties in infancy Renal insufficiency Mesoaxial polydactyly Hamartoma of tongue Myopia Umbilical hernia Cerebellar hypoplasia Recurrent respiratory infections Dandy-Walker malformation Respiratory failure Trigonocephaly Pneumonia Abnormality of the pinna Hypothalamic hamartoma Strabismus Skeletal dysplasia Abnormality of the genital system Highly arched eyebrow Hamartoma Scaphocephaly Renal hypoplasia Depressed nasal ridge Bilateral cryptorchidism

Rare Symptoms - Less than 30% cases


Abnormal cerebellum morphology Cerebellar vermis hypoplasia Oculomotor apraxia Tachypnea Dilatation Overfolded helix Retinal coloboma Molar tooth sign on MRI Abnormal corpus callosum morphology Absent speech Ventriculomegaly Retinal dystrophy Abnormal retinal morphology Gastroesophageal reflux Meningocele Inguinal hernia Y-shaped metacarpals Prominent nasal bridge Mesoaxial hand polydactyly Nail dysplasia Recurrent aspiration pneumonia Cholangitis Midline facial capillary hemangioma Anemia Wide nasal bridge Cupped ear Depressivity Abnormality of the urinary system Prominent forehead Delayed eruption of teeth Microdontia Coarctation of aorta Laryngeal cleft Gonadotropin deficiency Arrhinencephaly Abnormality of the skeletal system Immunodeficiency Hypothyroidism Postnatal growth retardation Paralysis Coloboma Abnormal cardiac septum morphology Bifid epiglottis Radial head subluxation Macrocephaly Atresia of the external auditory canal Anal stenosis Behavioral abnormality Respiratory tract infection Hip dislocation Single transverse palmar crease Horseshoe kidney Microretrognathia Cutaneous syndactyly Scrotal hypoplasia Ectopic kidney Hydrometrocolpos Hydroureter Natal tooth Oligodactyly Abnormal lung lobation Adrenal hypoplasia Microglossia Short 4th metacarpal Panhypopituitarism Microphallus Bilateral choanal atresia External genital hypoplasia Hypopituitarism Subcortical cerebral atrophy Retrognathia Enlarged kidney Thoracic dysplasia Preaxial polydactyly Mesomelia Preaxial hand polydactyly Laryngomalacia Renal hypoplasia/aplasia Abnormality of the outer ear Wide nose Polycystic kidney dysplasia Intestinal malrotation Hepatomegaly Occipital encephalocele Optic atrophy Tremor Short neck Upslanted palpebral fissure Polyhydramnios Craniosynostosis Pulmonary hypoplasia Specific learning disability Cerebral cortical hemiatrophy Omphalocele Broad neck Hypoplasia of the ulna Oligohydramnios Transposition of the great arteries Primary adrenal insufficiency Foot polydactyly Thoracic hypoplasia Tongue nodules Lobulated tongue Abnormal oral frenulum morphology Intellectual disability, moderate Short 5th finger Depressed nasal tip Short columella Patellar dislocation Vitiligo Kyphosis Overweight Flat face Hashimoto thyroiditis Intellectual disability, mild Autoimmune thrombocytopenia Femoral bowing IgA deficiency Thyroiditis Recurrent infections Congenital hypothyroidism Autoimmune hemolytic anemia Respiratory distress Mitral stenosis Abnormality of the dentition Polydactyly affecting the 4th finger Vertebral clefting Auricular tag Epibulbar dermoid Abnormality of the middle ear Prominent fingertip pads Biliary atresia Bronchomalacia Polydactyly affecting the 3rd finger Diaphragmatic eventration Gelastic seizures Severe hearing impairment Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Metaphyseal dysplasia Broad philtrum Diarrhea Small face Optic nerve coloboma Cerebellar vermis atrophy Right bundle branch block Long palpebral fissure Polymicrogyria Decreased antibody level in blood Dental malocclusion Prominent nose Macrotia Hypodontia Hemolytic anemia Hirsutism Pes planus Joint hypermobility Congenital diaphragmatic hernia Jaundice Astigmatism Malabsorption Hypoglycemia Autoimmunity Anxiety Metaphyseal widening Metaphyseal irregularity Protruding ear Otitis media Blue sclerae Celiac disease Purpura Joint laxity Bundle branch block Preauricular pit Small hand Brittle hair Failure to thrive in infancy Poor suck Abnormal dermatoglyphics Hyperbilirubinemia Recurrent otitis media Obesity Congenital hip dislocation Anorectal anomaly Increased body weight Sparse and thin eyebrow Abnormal vertebral morphology Cafe-au-lait spot Long eyelashes Heterotopia Common atrium Perineal fistula Crossed fused renal ectopia Hypoplasia of the zygomatic bone Labial hypoplasia Abnormality of tibia morphology Hyposmia Tics Facial paralysis Duodenal atresia Eyelid coloboma Abnormally large globe Choanal stenosis Abnormal cranial nerve morphology Down-sloping shoulders Aplasia/Hypoplasia of the earlobes Double outlet right ventricle External ear malformation Esophageal atresia Absent radius Abnormality of immune system physiology Weak cry Broad palm Mixed hearing impairment Vestibular dysfunction Mask-like facies Tracheoesophageal fistula Aqueductal stenosis Anterior hypopituitarism Bifid scrotum Abnormal palmar dermatoglyphics Parachute mitral valve Hypoplasia of the semicircular canal Parathyroid hypoplasia Abnormal soft palate morphology Bifid femur Hypoplasia of the cochlea Hand monodactyly Unilateral facial palsy Aplasia/Hypoplasia of the thymus Abnormality of the inner ear Square face Abnormality of bone mineral density Peripheral pulmonary artery stenosis Abnormality of the adrenal glands Aortic arch aneurysm Abnormality of the thymus Lop ear Abnormality of the cervical spine Narrow naris Dimple chin Interrupted aortic arch Abnormality of female internal genitalia Lacrimation abnormality Abnormal aortic valve morphology Aplasia/Hypoplasia of the cerebellum Anophthalmia Single ventricle Sensorineural hearing impairment Narrow mouth Autism Hypogonadism Clinodactyly of the 5th finger Midface retrusion Malar flattening Long philtrum Blindness Hydrocephalus Dysphagia Congenital mitral stenosis Facial palsy Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Supernumerary metacarpal bones Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Photophobia Abnormality of the eye Obsessive-compulsive behavior Aspiration Chorioretinal coloboma Reduced number of teeth Abnormality of vision Anosmia Cranial nerve paralysis Torticollis Plagiocephaly Short chin Hypogonadotrophic hypogonadism Hypocalcemia Narrow face Lymphopenia Attention deficit hyperactivity disorder Preauricular skin tag Short thumb Abnormality of the ribs Tetralogy of Fallot Webbed neck Vesicoureteral reflux Iris coloboma Facial asymmetry Delayed puberty Pulmonic stenosis Pectus carinatum Aplasia/Hypoplasia of the vagina Fibular hypoplasia 3-4 finger cutaneous syndactyly Redundant neck skin Short digit Renal cortical cysts Duane anomaly Abnormality of the optic disc Long clavicles Hyperechogenic kidneys Camptodactyly of finger Abnormality of the basal ganglia Colpocephaly Dilation of lateral ventricles Proximal femoral metaphyseal irregularity Chronic lung disease Enlarged cisterna magna Bell-shaped thorax Absent septum pellucidum Supernumerary nipple Short philtrum Increased intracranial pressure Wide intermamillary distance Finger syndactyly Elevated hepatic transaminase Elongated superior cerebellar peduncle Abnormality of the acetabulum High, narrow palate Neoplasm Pancreatic fibrosis Dyspnea Aplasia/Hypoplasia of the macula Hypoplasia of the small intestine Hypoplastic colon Extrapulmonary sequestrum Cerebral atrophy Pectus excavatum Cerebral cortical atrophy Proptosis Aplasia/Hypoplasia involving bones of the thorax Dysgenesis of the cerebellar vermis Abnormality of the 5th metacarpal Twelfth rib hypoplasia Early ossification of capital femoral epiphyses Rhizomelic leg shortening Open operculum Subretinal deposits Small cervical vertebral bodies Rhizomelic arm shortening Dilated third ventricle Cervical spinal canal stenosis Abnormality of eye movement Interphalangeal joint contracture of finger Lymphangioma Abnormality of the gingiva Submucous cleft hard palate Long face Median cleft lip Short tibia Abnormality of the nervous system Rectovaginal fistula Abnormality of the tongue Porencephalic cyst Abnormal oral mucosa morphology Intellectual disability, severe Esotropia Gait disturbance Fever Aplasia/Hypoplasia of the tibia Absent crus of helix Monorchism Microtia, third degree Oral synechia Aplasia/Hypoplasia of the mandible Bilateral lung agenesis Rectal atresia Broad nasal tip Abnormal joint morphology Split hand Short femur Central Y-shaped metacarpal Midline notch of upper alveolar ridge Encephalocele Occipital meningocele Bowing of the long bones Hypoplasia of olfactory tract Bulimia Joint dislocation Episodic tachypnea Preaxial foot polydactyly Biparietal narrowing Apraxia Partial agenesis of the corpus callosum Tibial bowing Genu varum Abnormality of neuronal migration Radial deviation of finger Hypoplastic toenails Aplasia/Hypoplasia of the corpus callosum Abnormality of the ear Finger clinodactyly Short finger Abnormality of the cerebellar vermis Oxycephaly Paroxysmal bursts of laughter Acute kidney injury Pyelonephritis Hypoplasia of the capital femoral epiphysis Pancreatic cysts Congenital hepatic fibrosis Bifid tongue Cone-shaped epiphyses of the phalanges of the hand Recurrent lower respiratory tract infections Lateral clavicle hook Prominent metopic ridge Nephronophthisis Aplasia of the middle phalanx of the hand Short thorax Short femoral neck Widely spaced teeth Cutis laxa Wide anterior fontanel Exotropia Short phalanx of finger Recurrent urinary tract infections Cholestasis Sparse scalp hair Frontal upsweep of hair Short proximal phalanx of finger Cerebellar cyst Secondary growth hormone deficiency Aplasia/hypoplasia of the uterus Recurrent upper and lower respiratory tract infections Abnormal basal ganglia MRI signal intensity Abnormal prolactin level Osteochondroma Broad toe Central adrenal insufficiency Bilateral postaxial polydactyly Bilateral renal agenesis Thyroid hypoplasia Facial grimacing Absence of renal corticomedullary differentiation Absent testis Adrenocorticotropic hormone deficiency Pituitary hypothyroidism Radial bowing Distal arthrogryposis Atrioventricular canal defect Large for gestational age Overlapping toe Unilateral renal agenesis Broad thumb Narrow forehead Macroglossia Cystic renal dysplasia Thickened skin Hypoplasia of the epiglottis Mandibular aplasia Rigidity Vaginal atresia Decreased circulating cortisol level Upper airway obstruction Hypopigmentation of the skin Ascites Postaxial foot polydactyly Abnormality of the face Hydrops fetalis Thyroid dysgenesis Muscle stiffness Multicystic kidney dysplasia Redundant skin Adrenal insufficiency Premature graying of hair Macular dystrophy Cystic hygroma Generalized hyperpigmentation Protuberant abdomen Polysplenia Edema Distal urethral duplication Horizontal ribs Acetabular spurs Nephropathy Short distal phalanx of finger Abnormality of skin pigmentation Retinal degeneration Stage 5 chronic kidney disease Smooth philtrum Scarring Wide mouth Absent tibia High forehead Rod-cone dystrophy Primitive neuroectodermal tumor Metaphyseal spurs Spasticity Hypoplasia of the corpus callosum Visual impairment Cognitive impairment Cataract Diverticulosis of trachea Mesoaxial foot polydactyly Distal shortening of limbs Preductal coarctation of the aorta Posterior choanal atresia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Narrow chest, related diseases and genetic alterations Macrocephaly and Low-set, posteriorly rotated ears, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more