Brachydactyly, and Dolichocephaly

Diseases related with Brachydactyly and Dolichocephaly

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


Top matches:

Medium match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE


Acromesomelic dysplasia, Maroteaux type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms).

Related symptoms:

  • Scoliosis
  • Depressed nasal bridge
  • Brachydactyly
  • Frontal bossing
  • Kyphosis


SOURCES: ORPHANET MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE

Medium match CRANIOSYNOSTOSIS, BOSTON TYPE


Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

Medium match SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19


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 with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Low-set ears
  • Brachydactyly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19

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Other less relevant matches:

Medium match AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME


Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

Medium match SCHNECKENBECKEN DYSPLASIA


Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

Medium match CRANIOECTODERMAL DYSPLASIA 3; CED3


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Micrognathia
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 3; CED3

Medium match SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7


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 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 Is also known as short rib-polydactyly syndrome, type v|srps5

Related symptoms:

  • Cleft palate
  • High palate
  • Epicanthus
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7

Medium match TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Medium match SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY; SRTD16


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 with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Low-set ears
  • Motor delay
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY; SRTD16

Medium match SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME


Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME Is also known as soft syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Dolichocephaly

Symptoms // Phenotype % cases
Midface retrusion Uncommon - Between 30% and 50% cases
Narrow chest Uncommon - Between 30% and 50% cases
Short distal phalanx of finger Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Short ribs Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Postaxial polydactyly Oral cleft Sparse hair Flat acetabular roof Widely spaced teeth Respiratory insufficiency Micromelia Limb undergrowth Respiratory distress Cleft lip Low-set ears Syndactyly Thoracic dysplasia Depressed nasal bridge Frontal bossing Macrocephaly Prominent forehead Bilateral postaxial polydactyly Nail dysplasia Short stature High forehead Agenesis of permanent teeth

Rare Symptoms - Less than 30% cases


Telecanthus Toe syndactyly Small nail Cone-shaped epiphysis Ectodermal dysplasia Deeply set eye Short metatarsal Short metacarpal Pulmonic stenosis Relative macrocephaly Thoracic hypoplasia Abnormal facial shape Renal insufficiency Hypoplastic ilia Lateral clavicle hook Pulmonary hypoplasia Generalized hypotonia Long philtrum Hypoplastic scapulae Severe short stature Abnormal form of the vertebral bodies Bowing of the long bones Disproportionate short stature Edema Ovoid vertebral bodies Seizures Growth delay Cryptorchidism Cleft palate Ventricular septal defect Hypermetropia Craniosynostosis Hypotelorism Sandal gap Clinodactyly Fine hair Gingival overgrowth Hypoplasia of teeth Triphalangeal thumb Carious teeth Hemiparesis Hyperventilation Poor appetite Underdeveloped supraorbital ridges Ventricular hypertrophy Sinusitis Polycythemia Increased body weight Preauricular pit Easy fatigability Clubbing Heart murmur Tetralogy of Fallot Scoliosis Cyanosis Congestive heart failure Short long bone Polycystic kidney dysplasia Aplasia/Hypoplasia of the eyebrow Mesomelia Cystic hygroma Short lingual frenulum Fused teeth Short uvula Muscle weakness Anemia Intrauterine growth retardation Abnormality of cardiovascular system morphology Thin vermilion border Patent ductus arteriosus Arrhythmia Abnormal heart morphology Clinodactyly of the 5th finger Recurrent respiratory infections Proptosis Dyspnea Truncus arteriosus Respiratory tract infection Paralysis Abnormal cardiac septum morphology Broad forehead Double outlet right ventricle Short thorax Right ventricular hypertrophy Waddling gait Postnatal growth retardation Wide mouth Microtia Small for gestational age Severe global developmental delay Long face Downturned corners of mouth Small hand Triangular face Broad nasal tip Prominent nose Type II diabetes mellitus Retrognathia Dental crowding Pointed chin Azoospermia High pitched voice Short femoral neck Short finger Low hanging columella Oligospermia Hypoplastic pelvis Breast hypoplasia Clitoral hypoplasia Frontal balding Developmental regression Osteopenia Pulmonary artery atresia Hypoplasia of the corpus callosum Breathing dysregulation Interrupted aortic arch Right ventricular failure Abnormal nasal morphology Endocarditis Overriding aorta Pulmonary valve atresia Tetralogy of Fallot with absent pulmonary valve Absence of the pulmonary valve Motor delay Wide nasal bridge Full cheeks Mandibular prognathia Short phalanx of finger Renal hypoplasia Protuberant abdomen Cone-shaped epiphyses of the phalanges of the hand Global developmental delay Microcephaly Hypertelorism Anteverted nares Abnormality of the dentition Short nose Posteriorly rotated ears Diabetes mellitus Hydrops fetalis Joint laxity Microdontia Hypertrichosis Hypoplasia of the radius Prominent occiput Horizontal ribs Intellectual disability Hearing impairment Sensorineural hearing impairment Pes planus Nail dystrophy Joint hypermobility Bilateral sensorineural hearing impairment Oligodontia Unicoronal synostosis Reduced number of teeth Abnormality of the hand Congenital sensorineural hearing impairment Anonychia Abnormality of digit Aplasia cutis congenita Severe sensorineural hearing impairment Conical tooth High-frequency hearing impairment Selective tooth agenesis Respiratory failure Bicoronal synostosis Absent toenail Headache Kyphosis Hyperlordosis Joint stiffness Joint hyperflexibility Sprengel anomaly Beaking of vertebral bodies Vertebral wedging Acromesomelia Myopia Downslanted palpebral fissures Brachycephaly Metopic synostosis Narrow forehead Wormian bones Trigonocephaly Visual field defect Increased number of teeth Turricephaly Coronal craniosynostosis Cleft soft palate Cloverleaf skull Anterior plagiocephaly Brachyturricephaly Anhidrotic ectodermal dysplasia Hidrotic ectodermal dysplasia Ascites Chronic kidney disease Rod-cone dystrophy Dry skin Stage 5 chronic kidney disease Cirrhosis Everted lower lip vermilion Postaxial hand polydactyly Cholestasis Rhizomelia Hepatic fibrosis Cutis laxa Nephronophthisis Micrognathia Scaphocephaly Sagittal craniosynostosis Peripheral pulmonary artery stenosis Short nail Broad nail 3-4 toe syndactyly High palate Epicanthus Hypospadias Hepatic failure Renal cyst Abnormality of the skeletal system Snail-like ilia Bilateral triphalangeal thumbs Disproportionate short-limb short stature Short neck Malar flattening Polyhydramnios Skeletal dysplasia Platyspondyly Abnormality of the metaphysis Lymphedema Spontaneous abortion Abnormality of the fingernails Accelerated skeletal maturation Metaphyseal irregularity Increased fibular diameter Hypoplastic toenails Fibular hypoplasia Diaphyseal thickening Vertebral hypoplasia Hypoplastic vertebral bodies Anterior rib cupping Advanced ossification of carpal bones Severe hydrops fetalis Dumbbell-shaped long bone Unossified vertebral bodies Advanced tarsal ossification Hypoplastic sacrum



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