Brachydactyly, and Abnormal lung morphology

Diseases related with Brachydactyly and Abnormal lung morphology

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


Top matches:

Low match JEUNE SYNDROME


Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.

JEUNE SYNDROME Is also known as asphyxiating thoracic dystrophy of the newborn|jatd|jeune asphyxiating thoracic dystrophy

Related symptoms:

  • Short stature
  • Brachydactyly
  • Respiratory insufficiency
  • Renal insufficiency
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about JEUNE SYNDROME

Low 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

Low match GELEOPHYSIC DYSPLASIA 3; GPHYSD3


Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

Mendelian

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

Learn more

Other less relevant matches:

Low match SALDINO-MAINZER SYNDROME


Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.

SALDINO-MAINZER SYNDROME Is also known as renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome|conorenal syndrome

Related symptoms:

  • Short stature
  • Cryptorchidism
  • Delayed speech and language development
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about SALDINO-MAINZER SYNDROME

Low match SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8


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 8 WITH OR WITHOUT POLYDACTYLY; SRTD8 Is also known as srps6|short rib-polydactyly syndrome, type vi

Related symptoms:

  • Short stature
  • Failure to thrive
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8

Low match SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5


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 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5|asphyxiating thoracic dystrophy 5

Related symptoms:

  • Growth delay
  • Cataract
  • Hypertension
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

Low match ACROMICRIC DYSPLASIA


Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.

Related symptoms:

  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Brachydactyly
  • Anteverted nares


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACROMICRIC DYSPLASIA

Low match CHITAYAT SYNDROME; CHYTS


Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about CHITAYAT SYNDROME; CHYTS

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C


Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (OMIM ) and CDG2A (OMIM ).The neutrophil defect in CDG2C has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), which is a manifestation of the disorder; there are no cases of 'primary' LAD II (Frydman, 1996).Etzioni and Harlan (1999) provided a comprehensive review of both LAD1 (OMIM ) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C Is also known as cdgiic|rhs|lad2|cdg iic|rambam-hasharon syndrome|leukocyte adhesion deficiency, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C

Low match OROFACIODIGITAL SYNDROME XVIII; OFD18


Orofaciodigital syndrome-18 is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features (Thevenon et al., 2016).

OROFACIODIGITAL SYNDROME XVIII; OFD18 Is also known as ofds xviii|oral-facial-digital syndrome, type xviii

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Brachydactyly
  • Wide nasal bridge
  • Upslanted palpebral fissure


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVIII; OFD18

Top 5 symptoms//phenotypes associated to Brachydactyly and Abnormal lung morphology

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Polydactyly Uncommon - Between 30% and 50% cases
Narrow chest Uncommon - Between 30% and 50% cases
Cleft lip Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Brachydactyly and Abnormal lung morphology. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Respiratory insufficiency Postaxial polydactyly Short ribs Oral cleft Thoracic dysplasia Short foot Long philtrum Respiratory distress Depressed nasal bridge Anteverted nares Syndactyly Generalized hypotonia Bulbous nose Thick vermilion border Lateral clavicle hook Respiratory tract infection Polyhydramnios Micromelia Short long bone

Rare Symptoms - Less than 30% cases


Round face Preaxial polydactyly Horizontal ribs Short middle phalanx of finger Severe short stature Growth delay Hepatomegaly Metaphyseal widening Wide nasal bridge Limb undergrowth Pneumonia Stage 5 chronic kidney disease Recurrent respiratory infections Dyspnea Joint stiffness Hoarse voice Thickened skin Small hand Full cheeks Short thorax Thoracic hypoplasia Cone-shaped epiphysis Pulmonary hypoplasia Respiratory failure Skeletal dysplasia Midface retrusion Ventricular septal defect Renal insufficiency Small forehead Bronchomalacia Parietal bossing Bronchospasm Intercostal retractions Seizures Square face Intellectual disability Tracheomalacia Global developmental delay Microcephaly Muscular hypotonia Accessory oral frenulum Intellectual disability, severe Short columella Abnormality of the integument Abnormality of digit Exertional dyspnea Interstitial pulmonary abnormality Abnormality of metabolism/homeostasis Hallux valgus Abnormality of the hand Tachypnea Broad thumb Highly arched eyebrow Abnormality of the foot Finger syndactyly Retrognathia Proptosis Clinodactyly Pectus excavatum Recurrent infections Anxiety Cervical ribs Urinary incontinence Echolalia Widow's peak Sandal gap Recurrent pneumonia Internal notch of the femoral head Abnormal vertebral morphology Short distal phalanx of finger Periodontitis Genu valgum Bronchiolitis Prominent nasal bridge Short philtrum Upslanted palpebral fissure Reduction of neutrophil motility Mild global developmental delay Cellulitis Cerebral cortical atrophy Otitis media Autism Coarse facial features Neutrophilia Diastema Median cleft lip Severe global developmental delay Febrile seizures Leukocytosis Slender long bone Short femoral neck Recurrent otitis media Drooling Intellectual disability, progressive Obsessive-compulsive behavior Hypertelorism Proteinuria Fifth metacarpal with ulnar notch Epiphyseal dysplasia Relative macrocephaly Prominent occiput Hypoplastic ilia Apnea Mitral regurgitation Sleep apnea Pulmonary artery stenosis Dolichocephaly Subglottic stenosis Cryptorchidism Delayed speech and language development Obesity Rod-cone dystrophy Ectodermal dysplasia Hypoplasia of the radius Prominent forehead Abnormality of the genitourinary system Abnormality of the metaphysis Feeding difficulties in infancy Abnormality of the liver Toe syndactyly Nephropathy Postaxial hand polydactyly Abnormality of the ribs Abnormality of retinal pigmentation Low-set ears Abnormality of pelvic girdle bone morphology Nephronophthisis Abnormality of the sternum Postaxial foot polydactyly Aplasia/Hypoplasia of the lungs Abnormality of the clavicle Nephrocalcinosis Bell-shaped thorax Constrictive median neuropathy Abnormality of epiphysis morphology Delayed skeletal maturation Narrow mouth Short palm Short metacarpal Thick lower lip vermilion Long eyelashes Short phalanx of finger Chronic tubulointerstitial nephritis Narrow palpebral fissure Deep philtrum Decreased nerve conduction velocity Abnormal eyebrow morphology Ovoid vertebral bodies Abnormality of femur morphology Short nose Short iliac bones Failure to thrive Hypertension Macrocephaly Ambiguous genitalia Femoral bowing Pancreatic fibrosis Acetabular spurs Cataract Myopia Pes valgus Inguinal hernia Thin upper lip vermilion Renal hypoplasia Rhizomelia Glomerulonephritis Elevated serum creatinine Agenesis of incisor



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Myeloid leukemia, related diseases and genetic alterations Macrocephaly and Telangiectasia, related diseases and genetic alterations Hydrocephalus and Gastroesophageal reflux, related diseases and genetic alterations Cleft palate and Migraine, related diseases and genetic alterations Ataxia and Hypogonadism, related diseases and genetic alterations Carcinoma and Epicanthus, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more