Brachydactyly, and Micropenis

Diseases related with Brachydactyly and Micropenis

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


Top matches:

Medium match BARDET-BIEDL SYNDROME 17; BBS17


BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Brachydactyly
  • Renal insufficiency
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 17; BBS17

Medium match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Medium match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2


Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

Mendelian

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

Learn more

Other less relevant matches:

Medium match BRACHYDACTYLY, TYPE B1; BDB1


BRACHYDACTYLY, TYPE B1; BDB1 Is also known as bdb|brachydactyly, type b

Related symptoms:

  • Sensorineural hearing impairment
  • Brachydactyly
  • Ventricular septal defect
  • Syndactyly
  • Micropenis


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE B1; BDB1

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 POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Medium match HAND-FOOT-GENITAL SYNDROME


Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.

HAND-FOOT-GENITAL SYNDROME Is also known as hfgs|hand-foot-uterus syndrome|hfu

Related symptoms:

  • Strabismus
  • Brachydactyly
  • Ventricular septal defect
  • Renal insufficiency
  • Hypospadias


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HAND-FOOT-GENITAL SYNDROME

Medium match SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6


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 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia

Related symptoms:

  • Short stature
  • Cleft palate
  • Delayed speech and language development
  • Motor delay
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

Medium match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Medium match OSTEOCRANIOSTENOSIS


Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOCRANIOSTENOSIS

Top 5 symptoms//phenotypes associated to Brachydactyly and Micropenis

Symptoms // Phenotype % cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Clinodactyly Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Severe short stature Polydactyly Cleft lip Ambiguous genitalia Short distal phalanx of finger Limb undergrowth Syndactyly Cryptorchidism Hydrocephalus Macrocephaly Hypospadias Global developmental delay Seizures Microcephaly Micromelia Cleft upper lip Skeletal dysplasia Depressed nasal tip Strabismus Short nose Oral cleft Wide nasal bridge Sensorineural hearing impairment Abnormality of the genital system Postaxial polydactyly Short foot Hypermetropia Ventricular septal defect

Rare Symptoms - Less than 30% cases


Respiratory insufficiency Short 1st metacarpal Intestinal malrotation Cognitive impairment High forehead Talipes equinovarus Generalized hypotonia Synostosis of carpal bones Downslanted palpebral fissures Failure to thrive Thin upper lip vermilion Camptodactyly Mesomelia Growth delay Delayed speech and language development Polycystic kidney dysplasia Proximal placement of thumb Cutaneous syndactyly Pulmonary hypoplasia Intellectual disability Craniosynostosis Thoracic dysplasia Broad thumb Motor delay Hamartoma of tongue Horizontal ribs Lateral clavicle hook Short ribs Anteverted nares Depressed nasal bridge Short philtrum Hypertelorism Decreased skull ossification Short hallux Abnormality of the skeletal system Renal cyst Midface retrusion Agenesis of corpus callosum Aniridia Prominent nasal bridge Deeply set eye Autism Hearing impairment Brachycephaly Postaxial hand polydactyly Myopia Obesity Renal insufficiency Astigmatism Abnormality of the outer ear Sacral dimple Abnormality of the larynx Retinal dystrophy Dilation of lateral ventricles Short tibia Cerebellar vermis hypoplasia Pachygyria Hydrops fetalis Abnormal dermatoglyphics Finger clinodactyly Median cleft lip Spontaneous abortion Short thumb Microglossia Hepatic fibrosis Tricuspid regurgitation Recurrent urinary tract infections Preaxial hand polydactyly Narrow chest Edema Platyspondyly Chordee Ulnar deviation of the 2nd finger Median cleft lip and palate Short first metatarsal Short 2nd toe Shortening of all middle phalanges of the fingers Hallux varus Pseudoepiphyses Abnormality of the urethra Uterus didelphys Penile hypospadias Small thenar eminence Pyelonephritis Hypoplastic fifth toenail Abnormality of the urinary system Delayed tarsal ossification Ureteropelvic junction obstruction Longitudinal vaginal septum Delayed ossification of carpal bones Bicornuate uterus Abnormality of the uterus Short 5th finger Atrial septal defect Abnormal heart morphology Bifid scrotum Abnormality of the hand Pectus carinatum Spondylometaphyseal dysplasia Poor speech Hypoplasia of the epiglottis Coarse facial features Decreased fetal movement Oligohydramnios Abdominal distention Ascites Recurrent fractures Polymicrogyria Small for gestational age Osteopenia Progressive microcephaly Prominent forehead Pneumonia Microphthalmia Intrauterine growth retardation Talipes calcaneovarus Small forehead Low frustration tolerance Lower limb hypertonia Bowing of the long bones Cardiac arrest Diastema Radial bowing Overtubulated long bones Thin clavicles Aplasia/hypoplasia of the extremities Ankyloglossia Lethal skeletal dysplasia Cloverleaf skull Asplenia Severe intrauterine growth retardation Hypocalcemia Thin ribs Slender long bone Hypokinesia Flared metaphysis Hyperostosis Redundant skin Growth abnormality Disproportionate short-limb short stature Alopecia areata Furrowed tongue Pancreatic fibrosis Pectus excavatum Protruding ear Intellectual disability, moderate Aggressive behavior Macrotia Mandibular prognathia Upslanted palpebral fissure Babinski sign Absent speech Spastic paraplegia Intellectual disability, severe Hyperreflexia High palate Spasticity Disproportionate shortening of the tibia Postaxial polysyndactyly of foot Polysyndactyly of hallux Shortening of the tibia Camptodactyly of finger Vesicoureteral reflux Shuffling gait Intellectual disability, progressive Distal lower limb amyotrophy Facial hypotonia Restlessness Multiple cafe-au-lait spots Progressive spastic paraplegia Lower limb hyperreflexia Large hands Decreased body weight Paraplegia Interphalangeal joint contracture of finger Decreased testicular size Hypoplasia of the maxilla Tapered finger High, narrow palate Short palm Falls Smooth philtrum Urinary incontinence Muscular hypotonia Microtia Dental crowding Thickened calvaria Chronic otitis media Oligodontia Increased bone mineral density Gingival overgrowth Short phalanx of finger Overgrowth Narrow naris Otitis media Dental malocclusion Wide mouth Conductive hearing impairment Umbilical hernia Proptosis Generalized osteosclerosis Triangular mouth Long philtrum Short long bone Cutaneous finger syndactyly Tarsal synostosis Vertebral fusion Delayed cranial suture closure Anonychia Short middle phalanx of finger Hemivertebrae Mesomelic short stature Joint contracture of the hand Wide anterior fontanel Toe syndactyly Finger syndactyly Otitis media with effusion Narrow nasal tip Hernia Abnormality of the dentition Thoracolumbar scoliosis Polydipsia Hyposmia Undetectable electroretinogram Postaxial foot polydactyly Foot polydactyly External genital hypoplasia Polyuria Anosmia Mesoaxial polydactyly Cone/cone-rod dystrophy Situs inversus totalis Retinal degeneration Stage 5 chronic kidney disease Hypogonadism Rod-cone dystrophy Bilateral postaxial polydactyly Y-shaped metacarpals Frontal bossing Scrotal hypoplasia Ulnar deviation of the hand or of fingers of the hand Microphallus Ulnar deviation of the hand Shield chest Barrel-shaped chest Adrenal hypoplasia Aplasia/Hypoplasia of the corpus callosum Low-set ears Holoprosencephaly Sandal gap Wide intermamillary distance Abnormality of the pinna Malar flattening Ventriculomegaly Carpal synostosis Hypoplastic fingernail Clinodactyly of the 5th finger Hypertension Broad forehead Autistic behavior Telecanthus Hypothyroidism Behavioral abnormality Epicanthus Anemia Downturned corners of mouth Ptosis Cataract Nystagmus Metaphyseal spurs Acetabular spurs Absent tibia Delayed puberty Single transverse palmar crease Bifid tongue Exostoses Cutaneous syndactyly between fingers 2 and 5 Multiple exostoses Parietal foramina Congenital ptosis Craniofacial dysostosis Sparse lateral eyebrow Turricephaly Broad nasal tip Self-injurious behavior Nephroblastoma Sparse eyebrow Wormian bones Underdeveloped nasal alae Prominent nose Cerebellar cyst Enlarged kidney Symphalangism affecting the phalanges of the hand Hypoplastic sacrum Short distal phalanx of toe Type B brachydactyly Distal symphalangism Aplasia/Hypoplasia of the nails Proximal symphalangism of hands Absent distal phalanges Aplasia/Hypoplasia of the distal phalanges of the hand Absent phalangeal crease Distal symphalangism of hands Aplasia/Hypoplasia of the distal phalanges of the toes Aplasia/Hypoplasia of the middle phalanges of the hand Absent fingernail Delayed eruption of permanent teeth Cutaneous syndactyly of toes Aplasia/Hypoplasia of the middle phalanges of the toes Scoliosis Fibular hypoplasia Cone-shaped epiphysis Transposition of the great arteries Metaphyseal dysplasia Femoral bowing Thoracic hypoplasia Hypoplasia of the ulna Metaphyseal irregularity Metaphyseal widening Respiratory distress Hand polydactyly Preaxial polydactyly Renal dysplasia Small hand Flat face Anal atresia Hypoplastic spleen



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Muscle cramps, related diseases and genetic alterations Hepatomegaly and Spina bifida, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more